124:(URA). The mutational spectrum of CFTR in the first group differs from that observed in classic cystic fibrosis, with milder missense or splice variants present on at least one chromosome. The genetic basis of the second group is not well understood. In the subset of males with both CBAVD and URA, the CFTR mutation has been shown to occur at a rate only slightly higher than the overall population. It has been suggested that another gene may be responsible for this condition.
104:
motile sperm after unilateral vasectomy) leaving 82 men deemed cases of CUAVD (0.36% of total sample). 82 men were further classified as confirmed (n=48, 0.21%) and possible (n=34, 0.15%; 22 without and 12 with scrotal anomalies) congenital UAVD. The misdiagnosis ratio of CUAVD was low when scrotal content was otherwise normal (1:48), but higher if anomalies were present (3:12).
99:
Vas deferens are less commonly palpated during routine a physical examination, hence the absence may go unnoticed. Also, injury to Vas deferens common in surgery. Vas deferens may be absent on one or both sides, and in whole or in part. When only a part of Vas deferens is absent, it may fail to
103:
In one of the largest such studies, a study of 23,013 individuals seeking for vasectomy, 159 were suspected to be having UAVD. Among 159 men identified as potentially having CUAVD, 47 had only one testicle, 26 had bilateral vasa, and four were misdiagnosed (post-vasectomy semen analysis showing
131:
in postpubertal males with cystic fibrosis. Strikingly, CAVD is one of the most consistent features of cystic fibrosis as it affects 98-99% of individuals in this CF patient population. In contrast, acute or persistent respiratory symptoms present in only 51% of total CF patients.
430:
Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M (1997). "Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens".
636:
621:
381:
ChillĂłn M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. (1995). "Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens".
728:
1277:
2087:
721:
1780:
117:
1972:
1349:
1325:
714:
1200:
2025:
1282:
2011:
1106:
1688:
88:. Therefore, those who are missing both vas deferens are typically able to create sperm but are unable to transport them appropriately. Their
979:
476:"Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations"
1958:
1878:
1741:
515:
Rosenstein BJ, Cutting GR (1998). "The diagnosis of cystic fibrosis: a consensus statement. Cystic
Fibrosis Foundation Consensus Panel".
651:
324:
1893:
1642:
1581:
342:"Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens"
1676:
1132:
706:
1440:
1435:
168:
1939:
1944:
1524:
1368:
2052:
2006:
1567:
1363:
1214:
1059:
1928:
1852:
1755:
1378:
1219:
1157:
697:
1662:
1553:
1320:
1147:
749:
551:
1717:
1934:
1099:
910:
164:
144:
1982:
887:
737:
1452:
1038:
171:(ICSI). However, as the risk of either cystic fibrosis or renal agenesis is likely to be higher in the children,
1647:
2092:
741:
276:
Miller, Sarah; Couture, Sophie; James, Gareth; Plourde, Simon; Rioux, Jacky; Labrecque, Michel (October 2016).
682:
192:
Donohue, R. E.; Fauver, H. E. (1989-02-24). "Unilateral absence of the vas deferens. A useful clinical sign".
147:(TRUS) are useful in detecting uni- or bilateral CAVD, which may be associated with visible abnormalities or
1499:
140:
128:
1373:
1258:
1092:
931:
2067:
1907:
1064:
941:
905:
772:
1473:
1263:
1069:
936:
764:
640:
163:
Individuals with CAVD can reproduce with the assistance of modern technology with a combination of
1987:
1977:
1810:
825:
782:
456:
172:
1824:
1727:
1652:
1628:
1515:
840:
830:
792:
777:
694:
Congenital bilateral aplasia of vas deferens; Congenital bilateral absence of the vas deferens
662:
584:
576:
532:
497:
448:
409:
363:
307:
258:
209:
27:
1866:
1771:
1722:
1703:
1657:
1614:
1600:
1586:
1411:
1406:
1392:
1344:
1233:
1181:
1176:
1171:
926:
835:
787:
566:
524:
487:
440:
399:
391:
353:
297:
289:
248:
240:
201:
152:
2037:
1805:
1786:
1539:
1430:
1425:
1330:
1195:
1152:
1123:
845:
693:
113:
62:
1298:
872:
820:
802:
797:
645:
302:
277:
253:
228:
121:
120:, while the smaller group (estimated between 10 and 40%) is associated with unilateral
528:
293:
244:
2081:
1838:
1115:
1054:
877:
205:
66:
460:
1846:
955:
701:
278:"Unilateral absence of vas deferens: prevalence among 23,013 men seeking vasectomy"
78:
56:
358:
341:
2046:
1008:
1000:
395:
93:
667:
474:
McCallum T, Milunsky J, Munarriz R, Carson R, Sadeghi-Nejad H, Oates R (2001).
1023:
1013:
882:
630:
552:"Ultrasound of the male genital tract in relation to male reproductive health"
492:
475:
580:
1033:
571:
112:
There are two main populations of CAVD; the larger group is associated with
81:
59:
1084:
588:
501:
367:
311:
262:
536:
452:
444:
413:
213:
1919:
1028:
864:
745:
148:
613:
96:. Unilateral absence may not show any abnormalities in semen analysis.
1018:
32:
404:
1901:
1860:
1749:
1735:
1493:
1487:
1481:
1467:
1461:
1227:
1208:
1189:
1165:
1141:
855:
812:
625:
1887:
1832:
1818:
1799:
1711:
1670:
1636:
1622:
1608:
1594:
1575:
1561:
1547:
1533:
1419:
1400:
1386:
1357:
1338:
1314:
897:
89:
85:
2019:
2000:
1996:
1966:
1952:
1697:
1271:
1252:
656:
328:
1088:
710:
329:
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD - 277180
69:. It may either be unilateral (CUAVD) or bilateral (CBAVD).
603:
2036:
1918:
1877:
1770:
1687:
1523:
1514:
1451:
1306:
1297:
1244:
1131:
1122:
1047:
999:
992:
972:
954:
919:
896:
863:
854:
811:
763:
756:
607:
229:"Congenital Unilateral Absence of the Vas Deferens"
38:
26:
21:
683:"Congenital bilateral absence of the vas deferens"
340:Grangeia A, Sá R, Carvalho F, et al. (2007).
744:congenital anomalies of the genitalia, including
127:Mutation of the CFTR gene is found to result in
1100:
722:
425:
423:
100:establish communication with the epididymis.
92:does not contain sperm, a condition known as
8:
2088:Congenital disorders of male genital organs
1520:
1303:
1128:
1107:
1093:
1085:
996:
860:
760:
729:
715:
707:
604:
18:
2012:Progressive symmetric erythrokeratodermia
570:
491:
403:
357:
301:
252:
2026:Clouston's hidrotic ectodermal dysplasia
116:and occurs because of a mutation in the
184:
1973:Keratitis–ichthyosis–deafness syndrome
1792:Congenital absence of the vas deferens
964:Congenital absence of the vas deferens
49:Congenital absence of the vas deferens
22:Congenital absence of the vas deferens
7:
325:Online Mendelian Inheritance in Man
1643:Jervell and Lange-Nielsen syndrome
1582:Jervell and Lange-Nielsen syndrome
980:Persistent MĂĽllerian duct syndrome
233:Medical Journal Armed Forces India
14:
294:10.1590/S1677-5538.IBJU.2015.0717
2053:Nephrogenic diabetes insipidus 2
1441:Congenital insensitivity to pain
1436:Paroxysmal extreme pain disorder
1364:Hypokalemic periodic paralysis 2
1215:Hypokalemic periodic paralysis 1
206:10.1001/jama.1989.03420080100041
169:intracytoplasmic sperm injection
1945:Hypoplastic left heart syndrome
1756:Thyrotoxic periodic paralysis 2
1369:Hyperkalemic periodic paralysis
1220:Thyrotoxic periodic paralysis 1
2007:Erythrokeratodermia variabilis
1959:Charcot–Marie–Tooth disease X1
1663:Familial atrial fibrillation 3
1568:Spinocerebellar ataxia type-13
1554:Familial atrial fibrillation 7
1321:Familial hemiplegic migraine 3
1148:Familial hemiplegic migraine 1
1060:Progestin-induced virilization
55:) is a condition in which the
1:
1853:Vitelliform macular dystrophy
1379:Potassium-aggravated myotonia
1158:Spinocerebellar ataxia type-6
550:Lotti, F.; Maggi, M. (2014).
529:10.1016/S0022-3476(98)70344-0
245:10.1016/S0377-1237(17)30530-0
77:The vas deferens connect the
359:10.1097/GIM.0b013e3180318aaf
1940:Hallermann–Streiff syndrome
1935:Oculodentodigital dysplasia
1500:Pseudohypoaldosteronism 1AR
911:Unilateral ovarian agenesis
396:10.1056/NEJM199506013322204
165:testicular sperm extraction
145:transrectal ultrasonography
2109:
888:Sertoli cell-only syndrome
227:Chawla, S (October 1999).
175:is generally recommended.
2063:
1039:Penoscrotal transposition
559:Human Reproduction Update
282:International Braz J Urol
1116:Diseases of ion channels
937:Mixed gonadal dysgenesis
1718:Andersen–Tawil syndrome
687:Genetics Home Reference
493:10.1093/humrep/16.2.282
141:Scrotal ultrasonography
129:obstructive azoospermia
1983:Bart–Pumphrey syndrome
1374:Paramyotonia congenita
1259:Malignant hyperthermia
932:Ovotesticular syndrome
65:fail to form properly
1908:Mucolipidosis type IV
1453:Constitutively active
1065:Pseudohermaphroditism
942:XY gonadal dysgenesis
906:XX gonadal dysgenesis
572:10.1093/humupd/dmu042
445:10.1007/s004390050518
1839:Osteopetrosis A2, B4
1648:Romano–Ward syndrome
1264:Central core disease
1070:True hermaphroditism
765:Uterine malformation
1393:Long QT syndrome 10
151:of the epididymis,
1988:Vohwinkel syndrome
1978:Ichthyosis hystrix
1867:Bartter syndrome 3
1811:Myotonia congenita
1723:Long QT syndrome 7
1704:Bartter syndrome 2
1658:Long QT syndrome 1
1615:Brugada syndrome 5
1601:Long QT syndrome 6
1587:Long QT syndrome 5
1431:Febrile seizure 3B
1412:Long QT syndrome 3
1407:Brugada syndrome 1
1345:Brugada syndrome 6
1331:Febrile seizure 3A
1234:Brugada syndrome 4
1182:Long QT syndrome 8
1177:Brugada syndrome 3
826:Vaginal hypoplasia
783:Unicornuate uterus
773:MĂĽllerian agenesis
173:genetic counseling
73:Signs and symptoms
42:genetic mutations.
2075:
2074:
1766:
1765:
1728:Short QT syndrome
1653:Short QT syndrome
1629:Short QT syndrome
1540:Episodic ataxia 1
1516:Potassium channel
1510:
1509:
1474:Liddle's syndrome
1293:
1292:
1196:Ocular albinism 2
1153:Episodic ataxia 2
1082:
1081:
1078:
1077:
988:
987:
950:
949:
841:Cloacal exstrophy
831:Imperforate hymen
793:Bicornuate uterus
778:Cervical agenesis
677:
676:
46:
45:
16:Medical condition
2100:
1772:Chloride channel
1689:Inward-rectifier
1521:
1304:
1172:Timothy syndrome
1129:
1109:
1102:
1095:
1086:
997:
927:Gonadal agenesis
861:
836:Vaginal adenosis
788:Uterus didelphys
761:
731:
724:
717:
708:
690:
605:
593:
592:
574:
556:
547:
541:
540:
512:
506:
505:
495:
471:
465:
464:
439:(3–4): 365–377.
427:
418:
417:
407:
378:
372:
371:
361:
337:
331:
322:
316:
315:
305:
288:(5): 1010–1017.
273:
267:
266:
256:
224:
218:
217:
200:(8): 1180–1182.
189:
153:seminal vesicles
19:
2108:
2107:
2103:
2102:
2101:
2099:
2098:
2097:
2093:Cystic fibrosis
2078:
2077:
2076:
2071:
2059:
2032:
1914:
1873:
1806:Thomsen disease
1787:Cystic fibrosis
1762:
1683:
1506:
1447:
1426:Erythromelalgia
1289:
1240:
1124:Calcium channel
1118:
1113:
1083:
1074:
1043:
984:
968:
946:
915:
892:
850:
846:Vaginal atresia
807:
752:
735:
681:
678:
673:
672:
616:
602:
597:
596:
554:
549:
548:
544:
514:
513:
509:
473:
472:
468:
429:
428:
421:
390:(22): 1475–80.
384:N. Engl. J. Med
380:
379:
375:
339:
338:
334:
323:
319:
275:
274:
270:
226:
225:
221:
191:
190:
186:
181:
161:
138:
114:cystic fibrosis
110:
79:sperm-producing
75:
57:vasa deferentia
17:
12:
11:
5:
2106:
2104:
2096:
2095:
2090:
2080:
2079:
2073:
2072:
2064:
2061:
2060:
2058:
2057:
2056:
2055:
2042:
2040:
2034:
2033:
2031:
2030:
2029:
2028:
2016:
2015:
2014:
2009:
1993:
1992:
1991:
1985:
1980:
1975:
1963:
1962:
1961:
1949:
1948:
1947:
1942:
1937:
1924:
1922:
1916:
1915:
1913:
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1911:
1910:
1898:
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1896:
1883:
1881:
1875:
1874:
1872:
1871:
1870:
1869:
1857:
1856:
1855:
1843:
1842:
1841:
1829:
1828:
1827:
1825:Dent's disease
1815:
1814:
1813:
1808:
1796:
1795:
1794:
1789:
1776:
1774:
1768:
1767:
1764:
1763:
1761:
1760:
1759:
1758:
1746:
1745:
1744:
1732:
1731:
1730:
1725:
1720:
1708:
1707:
1706:
1693:
1691:
1685:
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1680:
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1667:
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1660:
1655:
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1645:
1633:
1632:
1631:
1619:
1618:
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1605:
1604:
1603:
1591:
1590:
1589:
1584:
1572:
1571:
1570:
1558:
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1556:
1544:
1543:
1542:
1529:
1527:
1518:
1512:
1511:
1508:
1507:
1505:
1504:
1503:
1502:
1478:
1477:
1476:
1457:
1455:
1449:
1448:
1446:
1445:
1444:
1443:
1438:
1433:
1428:
1416:
1415:
1414:
1409:
1397:
1396:
1395:
1383:
1382:
1381:
1376:
1371:
1366:
1354:
1353:
1352:
1347:
1335:
1334:
1333:
1328:
1323:
1310:
1308:
1301:
1299:Sodium channel
1295:
1294:
1291:
1290:
1288:
1287:
1286:
1285:
1280:
1268:
1267:
1266:
1261:
1248:
1246:
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1241:
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1238:
1237:
1236:
1224:
1223:
1222:
1217:
1205:
1204:
1203:
1198:
1186:
1185:
1184:
1179:
1174:
1162:
1161:
1160:
1155:
1150:
1137:
1135:
1126:
1120:
1119:
1114:
1112:
1111:
1104:
1097:
1089:
1080:
1079:
1076:
1075:
1073:
1072:
1067:
1062:
1057:
1051:
1049:
1045:
1044:
1042:
1041:
1036:
1031:
1026:
1021:
1016:
1011:
1005:
1003:
994:
990:
989:
986:
985:
983:
982:
976:
974:
970:
969:
967:
966:
960:
958:
952:
951:
948:
947:
945:
944:
939:
934:
929:
923:
921:
917:
916:
914:
913:
908:
902:
900:
894:
893:
891:
890:
885:
880:
875:
873:Cryptorchidism
869:
867:
858:
852:
851:
849:
848:
843:
838:
833:
828:
823:
821:Vaginal septum
817:
815:
809:
808:
806:
805:
803:Arcuate uterus
800:
798:Uterine septum
795:
790:
785:
780:
775:
769:
767:
758:
754:
753:
736:
734:
733:
726:
719:
711:
705:
704:
691:
675:
674:
671:
670:
659:
648:
633:
617:
612:
611:
609:
608:Classification
601:
600:External links
598:
595:
594:
542:
507:
486:(2): 282–288.
466:
419:
373:
332:
317:
268:
219:
183:
182:
180:
177:
160:
157:
137:
134:
122:renal agenesis
109:
106:
74:
71:
67:prior to birth
44:
43:
40:
36:
35:
30:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2105:
2094:
2091:
2089:
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2083:
2070:
2069:
2062:
2054:
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2049:
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2044:
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2041:
2039:
2035:
2027:
2024:
2023:
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2021:
2017:
2013:
2010:
2008:
2005:
2004:
2003:
2002:
1998:
1994:
1989:
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1981:
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1909:
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1602:
1599:
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1577:
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1569:
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1559:
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1551:
1550:
1549:
1545:
1541:
1538:
1537:
1536:
1535:
1531:
1530:
1528:
1526:
1525:Voltage-gated
1522:
1519:
1517:
1513:
1501:
1498:
1497:
1496:
1495:
1490:
1489:
1484:
1483:
1479:
1475:
1472:
1471:
1470:
1469:
1464:
1463:
1459:
1458:
1456:
1454:
1450:
1442:
1439:
1437:
1434:
1432:
1429:
1427:
1424:
1423:
1422:
1421:
1417:
1413:
1410:
1408:
1405:
1404:
1403:
1402:
1398:
1394:
1391:
1390:
1389:
1388:
1384:
1380:
1377:
1375:
1372:
1370:
1367:
1365:
1362:
1361:
1360:
1359:
1355:
1351:
1348:
1346:
1343:
1342:
1341:
1340:
1336:
1332:
1329:
1327:
1324:
1322:
1319:
1318:
1317:
1316:
1312:
1311:
1309:
1307:Voltage-gated
1305:
1302:
1300:
1296:
1284:
1281:
1279:
1276:
1275:
1274:
1273:
1269:
1265:
1262:
1260:
1257:
1256:
1255:
1254:
1250:
1249:
1247:
1243:
1235:
1232:
1231:
1230:
1229:
1225:
1221:
1218:
1216:
1213:
1212:
1211:
1210:
1206:
1202:
1199:
1197:
1194:
1193:
1192:
1191:
1187:
1183:
1180:
1178:
1175:
1173:
1170:
1169:
1168:
1167:
1163:
1159:
1156:
1154:
1151:
1149:
1146:
1145:
1144:
1143:
1139:
1138:
1136:
1134:
1133:Voltage-gated
1130:
1127:
1125:
1121:
1117:
1110:
1105:
1103:
1098:
1096:
1091:
1090:
1087:
1071:
1068:
1066:
1063:
1061:
1058:
1056:
1055:Clitoromegaly
1053:
1052:
1050:
1046:
1040:
1037:
1035:
1032:
1030:
1027:
1025:
1022:
1020:
1017:
1015:
1012:
1010:
1007:
1006:
1004:
1002:
998:
995:
991:
981:
978:
977:
975:
971:
965:
962:
961:
959:
957:
953:
943:
940:
938:
935:
933:
930:
928:
925:
924:
922:
918:
912:
909:
907:
904:
903:
901:
899:
895:
889:
886:
884:
881:
879:
878:Polyorchidism
876:
874:
871:
870:
868:
866:
862:
859:
857:
853:
847:
844:
842:
839:
837:
834:
832:
829:
827:
824:
822:
819:
818:
816:
814:
810:
804:
801:
799:
796:
794:
791:
789:
786:
784:
781:
779:
776:
774:
771:
770:
768:
766:
762:
759:
755:
751:
747:
743:
739:
732:
727:
725:
720:
718:
713:
712:
709:
703:
702:Rare Diseases
700:'s Office of
699:
695:
692:
688:
684:
680:
679:
669:
665:
664:
660:
658:
654:
653:
649:
647:
643:
642:
638:
634:
632:
628:
627:
623:
619:
618:
615:
610:
606:
599:
590:
586:
582:
578:
573:
568:
564:
560:
553:
546:
543:
538:
534:
530:
526:
523:(4): 589–95.
522:
518:
511:
508:
503:
499:
494:
489:
485:
481:
477:
470:
467:
462:
458:
454:
450:
446:
442:
438:
434:
426:
424:
420:
415:
411:
406:
401:
397:
393:
389:
385:
377:
374:
369:
365:
360:
355:
352:(3): 163–72.
351:
347:
343:
336:
333:
330:
326:
321:
318:
313:
309:
304:
299:
295:
291:
287:
283:
279:
272:
269:
264:
260:
255:
250:
246:
242:
238:
234:
230:
223:
220:
215:
211:
207:
203:
199:
195:
188:
185:
178:
176:
174:
170:
166:
158:
156:
154:
150:
146:
142:
135:
133:
130:
125:
123:
119:
115:
107:
105:
101:
97:
95:
91:
87:
83:
80:
72:
70:
68:
64:
61:
58:
54:
50:
41:
37:
34:
31:
29:
25:
20:
2068:ion channels
2065:
2045:
2018:
1995:
1965:
1951:
1927:
1900:
1886:
1859:
1845:
1831:
1817:
1798:
1791:
1779:
1748:
1734:
1710:
1696:
1669:
1635:
1621:
1607:
1593:
1574:
1560:
1546:
1532:
1492:
1486:
1480:
1466:
1460:
1418:
1399:
1385:
1356:
1337:
1313:
1270:
1251:
1245:Ligand gated
1226:
1207:
1188:
1164:
1140:
963:
956:Vas deferens
686:
661:
650:
635:
620:
565:(1): 56–83.
562:
558:
545:
520:
516:
510:
483:
479:
469:
436:
432:
387:
383:
376:
349:
345:
335:
320:
285:
281:
271:
236:
232:
222:
197:
193:
187:
162:
155:or kidneys.
139:
126:
111:
102:
98:
76:
60:reproductive
52:
48:
47:
1879:TRP channel
1009:Hypospadias
480:Hum. Reprod
94:azoospermia
2082:Categories
2066:See also:
1024:Micropenis
1014:Epispadias
883:Monorchism
663:DiseasesDB
517:J. Pediatr
433:Hum. Genet
405:2445/44112
346:Genet. Med
239:(4): 375.
179:References
1034:Diphallia
581:1355-4786
159:Treatment
136:Diagnosis
118:CFTR gene
82:testicles
28:Specialty
1920:Connexin
1029:Aphallia
993:External
865:Testicle
757:Internal
746:intersex
589:25038770
502:11157821
461:24344109
368:17413420
327:(OMIM):
312:27509370
263:28790624
149:agenesis
1350:GEFS+ 1
1326:GEFS+ 2
1209:CACNA1S
1190:CACNA1F
1166:CACNA1C
1142:CACNA1A
1019:Chordee
537:9580754
453:9272157
414:7739684
303:5066900
254:5531955
214:2604761
84:to the
33:Urology
1902:TRPML1
1861:CLCNKB
1750:KCNJ18
1736:KCNJ11
1494:SCNN1G
1488:SCNN1B
1482:SCNN1A
1468:SCNN1G
1462:SCNN1B
1228:CACNB2
1201:CSNB2A
856:Gonads
813:Vagina
738:Female
657:277180
646:752.89
587:
579:
535:
500:
459:
451:
412:
366:
310:
300:
261:
251:
212:
108:Causes
63:organs
39:Causes
2038:Porin
1894:FSGS2
1888:TRPC6
1847:BEST1
1833:CLCN7
1819:CLCN5
1800:CLCN1
1742:TNDM3
1712:KCNJ2
1698:KCNJ1
1677:BFNS1
1671:KCNQ2
1637:KCNQ1
1623:KCNH2
1609:KCNE3
1595:KCNE2
1576:KCNE1
1562:KCNC3
1548:KCNA5
1534:KCNA1
1420:SCN9A
1401:SCN5A
1387:SCN4B
1358:SCN4A
1339:SCN1B
1315:SCN1A
1283:ARVD2
1278:CPVT1
1048:Other
1001:Penis
973:Other
920:Other
898:Ovary
668:34397
631:Q55.3
555:(PDF)
457:S2CID
90:semen
86:penis
2047:AQP2
2020:GJB6
2001:GJB4
1997:GJB3
1967:GJB2
1953:GJB1
1929:GJA1
1781:CFTR
1272:RYR2
1253:RYR1
748:and
742:male
740:and
652:OMIM
641:9-CM
585:PMID
577:ISSN
533:PMID
498:PMID
449:PMID
410:PMID
364:PMID
308:PMID
259:PMID
210:PMID
194:JAMA
167:and
143:and
53:CAVD
750:DSD
698:NIH
696:at
637:ICD
622:ICD
567:doi
525:doi
521:132
488:doi
441:doi
437:100
400:hdl
392:doi
388:332
354:doi
298:PMC
290:doi
249:PMC
241:doi
202:doi
198:261
2084::
685:.
666::
655::
644::
629::
626:10
583:.
575:.
563:21
561:.
557:.
531:.
519:.
496:.
484:16
482:.
478:.
455:.
447:.
435:.
422:^
408:.
398:.
386:.
362:.
348:.
344:.
306:.
296:.
286:42
284:.
280:.
257:.
247:.
237:55
235:.
231:.
208:.
196:.
1999:/
1990:)
1491:/
1485:/
1465:/
1108:e
1101:t
1094:v
730:e
723:t
716:v
689:.
639:-
624:-
614:D
591:.
569::
539:.
527::
504:.
490::
463:.
443::
416:.
402::
394::
370:.
356::
350:9
314:.
292::
265:.
243::
216:.
204::
51:(
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