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Pseudohypoparathyroidism

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Mantovani, G; Bastepe, M; Monk, D; de Sanctis, L; Thiele, S; Usardi, A; Ahmed, SF; Bufo, R; Choplin, T; De Filippo, G; Devernois, G; Eggermann, T; Elli, FM; Freson, K; GarcĂ­a Ramirez, A; Germain-Lee, EL; Groussin, L; Hamdy, N; Hanna, P; Hiort, O; JĂźppner, H; KamenickĂ˝, P; Knight, N; Kottler, ML; Le
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Norcy, E; Lecumberri, B; Levine, MA; Mäkitie, O; Martin, R; Martos-Moreno, GÁ; Minagawa, M; Murray, P; Pereda, A; Pignolo, R; Rejnmark, L; Rodado, R; Rothenbuhler, A; Saraff, V; Shoemaker, AH; Shore, EM; Silve, C; Turan, S; Woods, P; Zillikens, MC; Perez de Nanclares, G; Linglart, A (August 2018).
1008: 993: 165:). The phenotype is the same as in type 1a, but red blood cells show normal Gs activity. As it is also caused by a GNAS mutation, it is not clear whether it should be considered an entity separate from Ia. 1237: 1729: 1946: 671:"Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance" 1865: 1585: 1230: 1289: 62:, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional 70:). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100,000 population depending on geographic location. 1125: 889: 2039: 1330: 2177: 1746: 1223: 150:
Also lacks the physical appearance of type 1a. Since the genetic defect in type 2 is further down the signalling pathway than in type 1, there is a normal
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is typically mildly depressed or unaffected. Additional characteristics include short stature, obesity, developmental delay, and calcification of the
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While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response to exogenous PTH.
1612: 1397: 1831: 1374: 1325: 404: 315: 93: 1783: 1650: 1626: 865: 830: 542: 2065: 1971: 1886: 1848: 1443: 1420: 1539: 1511: 1495: 1023: 750: 653: 597: 1621: 1958: 1734: 1294: 1118: 2032: 1819: 1807: 2087: 615:"Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy" 2006: 1936: 1689: 1302: 1573: 2155: 1757: 1601: 1362: 1155: 486: 399: 237: 151: 1941: 1904: 1178: 1870: 1183: 1111: 154:
response to PTH stimulation despite the inherent abnormality in calcium regulation. The specific gene is not identified.
2091: 2025: 1983: 1173: 712:"Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16" 109: 1858: 1532: 1520: 927:"Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement" 896: 1921: 1704: 1255: 216:
of the hand is viewed in closed fist position. This presentation is known as 'knuckle knuckle dimple dimple' sign (
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Type 1a pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth
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Calcium and Calcitriol supplements, the latter with a larger dose than for treatment of hypoparathyroidism.
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similar. It is associated with a methylation defect in the A/B exon of GNAS1, caused by
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Aldred MA (May 2006). "Genetics of pseudohypoparathyroidism types Ia and Ic".
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appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
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de Nanclares GP, FernĂĄndez-Rebollo E, Santin I, et al. (June 2007).
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FrĂśhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, JĂźppner H (June 2007).
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which is characterized by blunting of only the fourth knuckle, and
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Shahid Hussain; Sharif Aaron Latif; Adrian Hall (1 July 2010).
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Ucciferro, Peter; Anastasolpoulou, Catherine (10 August 2020).
367:) however it can also be the result of an imprinting issue of ( 50:
genetic condition associated primarily with resistance to the
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Laspa E, Bastepe M, JĂźppner H, Tsatsoulis A (December 2004).
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is used to describe a condition where the individual has the
228:, which is associated with a hypoplastic middle phalanx. 246: 1947:
Junctional epidermolysis bullosa with pyloric atresia
975: 185:, and if the calcium deficit is severe, generalized 2142: 2119: 2074: 2056: 1914: 1841: 1756: 1703: 1674: 1611: 1473: 1457: 1430: 1407: 1384: 1269: 1254: 1197: 1164: 1141: 1066: 979: 29: 24: 129:Lacks the physical appearance of type 1a, but is 1586:Congenital insensitivity to pain with anhidrosis 572:. Treasure Island (FL): StatPearls Publishing. 161:Some sources also refer to a "type 1c" (OMIM 2033: 1231: 1119: 811:"The GNAS Locus and Pseudohypoparathyroidism" 523:"The GNAS Locus and Pseudohypoparathyroidism" 8: 1331:Gonadotropin-releasing hormone insensitivity 371:) due to mother and father in equal measure 92:Has a characteristic phenotypic appearance ( 54:. Those with the condition have a low serum 1747:Congenital amegakaryocytic thrombocytopenia 2080: 2040: 2026: 2018: 1832:Autoimmune lymphoproliferative syndrome 1A 1470: 1315:Follicle-stimulating hormone insensitivity 1266: 1238: 1224: 1216: 1126: 1112: 1104: 976: 21: 1996:X-linked severe combined immunodeficiency 1772:TNF receptor associated periodic syndrome 953: 727: 686: 630: 1784:Selective immunoglobulin A deficiency 2 1375:Aspirin-exacerbated respiratory disease 513: 1959:EDAR hypohidrotic ectodermal dysplasia 1887:Familial exudative vitreoretinopathy 4 1444:Familial exudative vitreoretinopathy 1 173:Patients may present with features of 1651:Hereditary hemorrhagic telangiectasia 1627:Persistent MĂźllerian duct syndrome II 1398:Jansen's metaphyseal chondrodysplasia 108:disorder. It is also associated with 7: 2066:Transient neonatal diabetes mellitus 1972:Nevoid basal-cell carcinoma syndrome 1421:Familial hypocalciuric hypercalcemia 860:. Manson Publishing. pp. 262–. 96:), including short fourth and fifth 94:Albright's hereditary osteodystrophy 1735:Surfactant metabolism dysfunction 4 751:Online Mendelian Inheritance in Man 654:Online Mendelian Inheritance in Man 598:Online Mendelian Inheritance in Man 212:of the hand, most notable when the 2178:Cell surface receptor deficiencies 1984:BMPR1A juvenile polyposis syndrome 1905:LDLR Familial hypercholesterolemia 359:Likely a gene defect from mother ( 14: 1295:Luteinizing hormone insensitivity 1363:Nephrogenic diabetes insipidus 1 1303:Male-limited precocious puberty 177:including carpo-pedal muscular 2156:Pseudopseudohypoparathyroidism 1690:Leber's congenital amaurosis 1 1602:Gastrointestinal stromal tumor 1156:Pseudopseudohypoparathyroidism 487:Pseudopseudohypoparathyroidism 400:Pseudopseudohypoparathyroidism 238:pseudopseudohypoparathyroidism 1: 934:Nature Reviews. Endocrinology 768:J. Pediatr. Endocrinol. Metab 375: 340: 311: 2088:Beckwith–Wiedemann syndrome 1283:Congenital hypothyroidism 1 823:10.1007/978-0-387-77576-0_3 780:10.1515/jpem.2006.19.s2.635 535:10.1007/978-0-387-77576-0_3 110:thyroid stimulating hormone 2199: 1942:Glanzmann's thrombasthenia 1922:Immunoglobulin superfamily 1574:Rabson–Mendenhall syndrome 1256:G protein-coupled receptor 675:J. Clin. Endocrinol. Metab 619:J. Clin. Endocrinol. Metab 2102: 2083: 1796:Hyper-IgM syndrome type 3 946:10.1038/s41574-018-0042-0 857:Rapid Review of Radiology 398: 332:Gene defect from mother ( 309:Pseudohypoparathyroidism 308: 283: 249: 220:). This is as opposed to 2152:Pseudohypoparathyroidism 1871:Cenani–Lenz syndactylism 1713:Type I cytokine receptor 1351:Hirschsprung's disease 2 1189:Osteitis fibrosa cystica 1151:Pseudohypoparathyroidism 569:Pseudohypoparathyroidism 421:gene defect from father 44:Pseudohypoparathyroidism 25:Pseudohypoparathyroidism 2092:Silver–Russell syndrome 1553:Thanatophoric dysplasia 1347:Waardenburg syndrome 4a 104:. It is most likely an 2007:cell surface receptors 1859:Donnai–Barrow syndrome 1533:Jackson–Weiss syndrome 1521:Antley–Bixler syndrome 1505:KAL2 Kallmann syndrome 1459:Enzyme-linked receptor 1299:Leydig cell hypoplasia 112:resistance. Caused by 16:Rare genetic condition 2133:Prader-Willi syndrome 1319:XX gonadal dysgenesis 1247:Cell surface receptor 1665:Loeys–Dietz syndrome 729:10.1210/en.2006-1298 688:10.1210/jc.2004-0249 632:10.1210/jc.2006-2287 433:Biochemical findings 1166:Hyperparathyroidism 1135:Parathyroid disease 809:Bastepe, M (2008). 774:(Suppl 2): 635–40. 492:Hyperparathyroidism 454:hyperparathyroidism 450:parathyroid hormone 52:parathyroid hormone 2107:Myoclonic dystonia 2050:genomic imprinting 1635:TGF beta receptors 1143:Hypoparathyroidism 1067:External resources 815:Genomic Imprinting 527:Genomic Imprinting 521:Bastepe M (2008). 502:Hypervitaminosis D 482:Hypoparathyroidism 285:Hypoparathyroidism 232:Related conditions 106:autosomal dominant 48:autosomal dominant 2165: 2164: 2129:Angelman syndrome 2115: 2114: 2048:Disorders due to 2015: 2014: 1699: 1698: 1549:Hypochondroplasia 1525:Pfeiffer syndrome 1501:Pfeiffer syndrome 1453: 1452: 1213: 1212: 1101: 1100: 888:Levine, Michael. 867:978-1-84076-120-7 832:978-0-387-77575-3 544:978-0-387-77575-3 444:hyperphosphatemia 425: 424: 41: 40: 19:Medical condition 2190: 2081: 2042: 2035: 2028: 2019: 1569:Donohue syndrome 1529:Crouzon syndrome 1489:Robinow syndrome 1471: 1267: 1240: 1233: 1226: 1217: 1128: 1121: 1114: 1105: 977: 967: 957: 931: 911: 910: 908: 907: 901: 895:. Archived from 894: 885: 879: 878: 876: 874: 851: 845: 844: 806: 800: 799: 763: 757: 748: 742: 741: 731: 707: 701: 700: 690: 666: 660: 651: 645: 644: 634: 610: 604: 595: 589: 588: 586: 584: 563: 557: 556: 518: 405:Skeletal defects 316:Skeletal defects 247: 218:Archibald's sign 147: 126: 89: 68:Gs alpha subunit 66:(in particular, 22: 2198: 2197: 2193: 2192: 2191: 2189: 2188: 2187: 2168: 2167: 2166: 2161: 2138: 2111: 2098: 2095: 2070: 2052: 2046: 2016: 2011: 1915:Other/ungrouped 1910: 1891:Osteopetrosis 1 1837: 1752: 1695: 1670: 1607: 1557:Muenke syndrome 1463: 1461: 1449: 1426: 1403: 1380: 1258: 1250: 1244: 1214: 1209: 1205:Parathyroiditis 1193: 1160: 1137: 1132: 1102: 1097: 1096: 1062: 1061: 988: 974: 929: 923: 920: 918:Further reading 915: 914: 905: 903: 899: 892: 887: 886: 882: 872: 870: 868: 853: 852: 848: 833: 808: 807: 803: 765: 764: 760: 749: 745: 709: 708: 704: 668: 667: 663: 652: 648: 612: 611: 607: 596: 592: 582: 580: 565: 564: 560: 545: 520: 519: 515: 510: 478: 470: 435: 430: 304:Not applicable 234: 222:Turner syndrome 171: 141: 120: 83: 78:Types include: 76: 20: 17: 12: 11: 5: 2196: 2194: 2186: 2185: 2180: 2170: 2169: 2163: 2162: 2160: 2159: 2148: 2146: 2140: 2139: 2137: 2136: 2125: 2123: 2117: 2116: 2113: 2112: 2110: 2109: 2103: 2100: 2099: 2097: 2096: 2084: 2078: 2072: 2071: 2069: 2068: 2062: 2060: 2054: 2053: 2047: 2045: 2044: 2037: 2030: 2022: 2013: 2012: 2010: 2009: 2004: 2000: 1999: 1987: 1975: 1950: 1949: 1944: 1939: 1929: 1928: 1918: 1916: 1912: 1911: 1909: 1908: 1895: 1894: 1883:Worth syndrome 1874: 1862: 1845: 1843: 1842:Lipid receptor 1839: 1838: 1836: 1835: 1823: 1811: 1799: 1787: 1775: 1762: 1760: 1754: 1753: 1751: 1750: 1739: 1738: 1726: 1723:Laron syndrome 1709: 1707: 1701: 1700: 1697: 1696: 1694: 1693: 1680: 1678: 1672: 1671: 1669: 1668: 1654: 1631: 1630: 1617: 1615: 1609: 1608: 1606: 1605: 1598:KIT Piebaldism 1589: 1577: 1571: 1560: 1545:Achondroplasia 1536: 1517:Apert syndrome 1508: 1492: 1479: 1477: 1468: 1455: 1454: 1451: 1450: 1448: 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305: 302: 299: 296: 293: 290: 287: 281: 280: 275: 270: 265: 260: 254: 251: 233: 230: 170: 167: 156: 155: 148: 138: 127: 117: 100:and a rounded 90: 75: 72: 39: 38: 33: 27: 26: 18: 15: 13: 10: 9: 6: 4: 3: 2: 2195: 2184: 2183:Rare diseases 2181: 2179: 2176: 2175: 2173: 2157: 2153: 2150: 2149: 2147: 2145: 2144:Chromosome 20 2141: 2134: 2130: 2127: 2126: 2124: 2122: 2121:Chromosome 15 2118: 2108: 2105: 2104: 2101: 2093: 2089: 2086: 2085: 2082: 2079: 2077: 2076:Chromosome 11 2073: 2067: 2064: 2063: 2061: 2059: 2055: 2051: 2043: 2038: 2036: 2031: 2029: 2024: 2023: 2020: 2008: 2005: 2002: 2001: 1997: 1993: 1992: 1988: 1985: 1981: 1980: 1976: 1973: 1969: 1968: 1964: 1963: 1962: 1960: 1956: 1955: 1948: 1945: 1943: 1940: 1938: 1934: 1931: 1930: 1927: 1923: 1920: 1919: 1917: 1913: 1906: 1902: 1901: 1897: 1896: 1892: 1888: 1884: 1880: 1879: 1875: 1872: 1868: 1867: 1863: 1860: 1856: 1855: 1850: 1847: 1846: 1844: 1840: 1833: 1829: 1828: 1824: 1821: 1817: 1816: 1812: 1809: 1805: 1804: 1800: 1797: 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571: 570: 562: 559: 554: 550: 546: 540: 536: 532: 528: 524: 517: 514: 507: 503: 500: 498: 495: 493: 490: 488: 485: 483: 480: 479: 475: 473: 467: 462: 458: 455: 451: 447: 445: 442: 440: 437: 436: 432: 427: 420: 417: 414: 411: 408: 406: 403: 401: 397: 393: 390: 387: 384: 381: 378: 374: 370: 366: 362: 358: 355: 352: 349: 346: 343: 339: 335: 331: 328: 325: 322: 319: 317: 314: 307: 303: 300: 297: 294: 291: 288: 286: 282: 279: 276: 274: 271: 269: 266: 264: 261: 258: 255: 252: 248: 245: 243: 239: 231: 229: 227: 226:Down syndrome 223: 219: 215: 211: 206: 204: 200: 196: 195:basal ganglia 192: 188: 184: 180: 176: 175:hypocalcaemia 168: 166: 164: 159: 153: 149: 145: 139: 136: 132: 131:biochemically 128: 124: 118: 115: 111: 107: 103: 99: 95: 91: 87: 81: 80: 79: 73: 71: 69: 65: 61: 57: 53: 49: 45: 37: 36:Endocrinology 34: 32: 28: 23: 2151: 2058:Chromosome 6 1989: 1977: 1965: 1952: 1951: 1898: 1876: 1864: 1852: 1825: 1813: 1801: 1789: 1777: 1765: 1758:TNF receptor 1728: 1716: 1683: 1620: 1591: 1579: 1562: 1538: 1510: 1494: 1482: 1437: 1414: 1391: 1368: 1356: 1336: 1324: 1308: 1288: 1276: 1249:deficiencies 1150: 1085: 1074: 1050: 1039: 1022: 1007: 992: 937: 933: 904:. 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Retrieved 568: 561: 526: 516: 471: 439:hypocalcemia 235: 207: 199:white matter 197:in the deep 181:, cramping, 172: 169:Presentation 160: 157: 77: 43: 42: 1259:(including 1076:MedlinePlus 459:Suppressed 253:Appearance 137:disruption. 98:metacarpals 2172:Categories 1462:(including 1052:DiseasesDB 906:2014-11-10 873:30 October 508:References 461:calcitriol 278:Imprinting 273:Phosphates 263:Calcitriol 250:Condition 242:phenotypic 64:G proteins 46:is a rare 1815:TNFRSF13B 1803:TNFRSF13C 1779:TNFRSF13B 1179:Secondary 1087:eMedicine 468:Treatment 448:elevated 428:Diagnosis 236:The term 116:mutation. 60:phosphate 58:and high 31:Specialty 2003:See also 1933:Integrin 1767:TNFRSF1A 1705:JAK-STAT 1639:Endoglin 1184:Tertiary 1092:med/1940 964:29959430 841:18372789 796:26538688 788:16789628 753:(OMIM): 738:17317779 697:15579741 656:(OMIM): 641:17405843 600:(OMIM): 578:31613489 553:18372789 476:See also 341:Type 1B 312:Type 1A 210:knuckles 187:seizures 119:Type 1b 82:Type 1a 1926:AGM3, 6 1827:TNFRSF6 1791:TNFRSF5 1431:Class F 1408:Class C 1385:Class B 1270:Class A 1261:hormone 1174:Primary 1046:D011547 955:6541219 497:Rickets 418:Normal 415:Normal 412:Normal 409:Normal 379:Normal 376:Type 2 344:Normal 289:Normal 268:Calcium 259:levels 201:of the 142:(OMIM 140:Type 2 121:(OMIM 84:(OMIM 56:calcium 1979:BMPR1A 1730:CSF2RA 1685:GUCY2D 1661:TGFBR2 1657:TGFBR1 1370:PTGER2 1081:000364 1035:203330 1032:603233 1029:103580 1018:275.49 962:  952:  864:  839:  829:  794:  786:  755:203330 736:  695:  658:603233 639:  602:103580 576:  551:  541:  463:levels 214:dorsum 183:tetany 179:spasms 163:612462 144:203330 123:603233 102:facies 86:103580 1991:IL2RG 1967:PTCH1 1820:CVID2 1808:CVID4 1647:SMAD4 1643:Alk-1 1622:AMHR2 1581:NTRK1 1540:FGFR3 1512:FGFR2 1496:FGFR1 1393:PTH1R 1358:AVPR2 1338:EDNRB 1326:GnRHR 1290:LHCGR 1198:Other 1057:10835 1003:E20.1 930:(PDF) 900:(PDF) 893:(PDF) 792:S2CID 583:2 May 391:High 382:High 369:GNAS1 365:STX16 361:GNAS1 356:High 347:High 334:GNAS1 329:High 320:High 301:High 203:brain 135:STX16 114:GNAS1 74:Types 2154:♀ / 2131:♀ / 2090:♀ / 1954:EDAR 1937:LAD1 1900:LDLR 1878:LRP5 1866:LRP4 1854:LRP2 1613:STPK 1564:INSR 1484:ROR2 1439:FZD4 1416:CASR 1310:FSHR 1278:TSHR 1041:MeSH 1024:OMIM 1013:9-CM 960:PMID 875:2010 862:ISBN 837:PMID 827:ISBN 784:PMID 734:PMID 693:PMID 637:PMID 585:2021 574:PMID 549:PMID 539:ISBN 388:Low 385:Low 363:and 353:Low 350:Low 326:Low 323:Low 298:Low 295:Low 292:Low 152:cAMP 1849:LRP 1743:MPL 1593:KIT 1475:RTK 1009:ICD 994:ICD 950:PMC 942:doi 819:doi 776:doi 724:doi 720:148 683:doi 627:doi 531:doi 257:PTH 2174:: 1961:) 1935:: 1924:: 1889:, 1885:, 1851:: 1718:GH 1715:: 1676:GC 1637:: 1600:, 1555:, 1551:, 1547:, 1531:, 1527:, 1523:, 1519:, 1503:, 1349:, 1345:, 1317:, 1301:, 1297:, 1090:: 1079:: 1055:: 1044:: 1027:: 1016:: 1001:: 998:10 958:. 948:. 938:14 936:. 932:. 835:. 825:. 813:. 790:. 782:. 772:19 770:. 732:. 718:. 714:. 691:. 679:89 677:. 673:. 635:. 623:92 621:. 617:. 547:. 537:. 525:. 394:? 336:) 205:. 191:IQ 189:. 2158:♂ 2135:♂ 2094:♂ 2041:e 2034:t 2027:v 1998:) 1994:( 1986:) 1982:( 1974:) 1970:( 1957:( 1907:) 1903:( 1893:) 1881:( 1873:) 1869:( 1861:) 1857:( 1834:) 1830:( 1822:) 1818:( 1810:) 1806:( 1798:) 1794:( 1786:) 1782:( 1774:) 1770:( 1749:) 1745:( 1737:) 1733:( 1725:) 1721:( 1692:) 1688:( 1667:) 1663:( 1659:/ 1653:) 1649:( 1645:/ 1641:/ 1629:) 1625:( 1604:) 1596:( 1588:) 1584:( 1576:) 1567:( 1559:) 1543:( 1535:) 1515:( 1507:) 1499:( 1491:) 1487:( 1467:) 1446:) 1442:( 1423:) 1419:( 1400:) 1396:( 1377:) 1373:( 1365:) 1361:( 1353:) 1341:( 1333:) 1329:( 1321:) 1313:( 1305:) 1293:( 1285:) 1281:( 1263:) 1239:e 1232:t 1225:v 1127:e 1120:t 1113:v 1011:- 996:- 986:D 966:. 944:: 909:. 877:. 843:. 821:: 798:. 778:: 740:. 726:: 699:. 685:: 643:. 629:: 587:. 555:. 533:: 456:) 452:( 146:) 125:) 88:)

Index

Specialty
Endocrinology
autosomal dominant
parathyroid hormone
calcium
phosphate
G proteins
Gs alpha subunit
103580
Albright's hereditary osteodystrophy
metacarpals
facies
autosomal dominant
thyroid stimulating hormone
GNAS1
603233
biochemically
STX16
203330
cAMP
612462
hypocalcaemia
spasms
tetany
seizures
IQ
basal ganglia
white matter
brain
knuckles

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