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Terminal osseous dysplasia with pigmentary defects

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is a cutaneous condition characterized by hyperpigmented, atrophic facial
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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This condition is inherited in an X-linked dominant manner.
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Microcephalic osteodysplastic primordial dwarfism type II
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Epidermolysis bullosa simplex with muscular dystrophy
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Sun Y, Almomani R, Aten E, et al. (July 2010).
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You can help Knowledge (XXG) by 1055:Striate palmoplantar keratoderma 2 750:Charcot–Marie–Tooth disease 1F, 2E 528:Striate palmoplantar keratoderma 3 14: 906:Asphyxiating thoracic dysplasia 3 795:Limb-girdle muscular dystrophy 1B 113:. St. Louis: Mosby. p. 897. 901:Short rib-polydactyly syndrome 3 878:Hereditary spastic paraplegia 10 373:Hypertrophic cardiomyopathy 7, 2 85:Osseous choristoma of the tongue 800:Charcot–Marie–Tooth disease 2B1 1009:Familial adenomatous polyposis 963:Hereditary elliptocytosis 2, 3 873:Charcot–Marie–Tooth disease 2A 785:Familial partial lipodystrophy 297:Hypertrophic cardiomyopathy 11 1: 958:Hereditary spherocytosis 2, 3 927:Cavernous venous malformation 755:Amyotrophic lateral sclerosis 725:Amyotrophic lateral sclerosis 629:Epidermolysis bullosa simplex 579:Epidermolysis bullosa simplex 549:Ichthyosis bullosa of Siemens 419:Hypertrophic cardiomyopathy 9 396:Hypertrophic cardiomyopathy 3 599:Epidermolytic hyperkeratosis 533:Epidermolytic hyperkeratosis 90:List of cutaneous conditions 80:Corneodermatosseous syndrome 64:It has been associated with 820:Buschke–Ollendorff syndrome 1222: 1140: 979:Hereditary spherocytosis 1 896:Primary ciliary dyskinesia 302:Dilated cardiomyopathy 1AA 152:10.1016/j.ajhg.2010.06.008 1123: 810:Barraquer–Simons syndrome 703:Dilated cardiomyopathy 1I 449:Weill–Marchesani syndrome 111:Dermatology: 2-Volume Set 35: 26: 953:Spinocerebellar ataxia 5 777:Mandibuloacral dysplasia 345:Freeman–Sheldon syndrome 1092:Skin fragility syndrome 1034:Giant axonal neuropathy 639:Steatocystoma multiplex 378:Nemaline myopathy 4, 5 1128:Cytoskeletal proteins 1206:Genodermatoses stubs 835:Pelger–Huet anomaly 745:Parkinson's disease 466:Boomerang dysplasia 401:Nemaline myopathy 1 355:May–Hegglin anomaly 312:Nemaline myopathy 3 1004:Gardner's syndrome 973:Long QT syndrome 4 649:Familial cirrhosis 619:White sponge nevus 589:Familial cirrhosis 569:White sponge nevus 1163: 1162: 1135: 1134: 1060:Carvajal syndrome 935: 934: 850: 849: 714:Alexander disease 486: 485: 427: 426: 340:Usher syndrome 1B 330:Elejalde syndrome 228: 227: 140:Am. J. Hum. Genet 120:978-1-4160-2999-1 52: 51: 16:Medical condition 1213: 1184: 1177: 1170: 1142: 1126:Related topics: 861: 497: 285: 276: 255: 248: 241: 232: 186: 174: 173: 163: 131: 125: 124: 106: 31: 19: 1221: 1220: 1216: 1215: 1214: 1212: 1211: 1210: 1191: 1190: 1189: 1188: 1138: 1136: 1131: 1119: 1039: 983: 931: 910: 882: 846: 825:Osteopoikilosis 759: 729: 682: 482: 471:Larsen syndrome 444:Marfan syndrome 423: 405: 382: 359: 316: 265: 259: 229: 224: 223: 197: 183: 178: 177: 133: 132: 128: 121: 108: 107: 103: 98: 76: 17: 12: 11: 5: 1219: 1217: 1209: 1208: 1203: 1201:Genodermatoses 1193: 1192: 1187: 1186: 1179: 1172: 1164: 1161: 1160: 1148:Genodermatoses 1133: 1132: 1124: 1121: 1120: 1118: 1117: 1100: 1099: 1094: 1084: 1083: 1078: 1068: 1067: 1062: 1057: 1047: 1045: 1041: 1040: 1038: 1037: 1025: 1022:Naxos syndrome 1013: 1012: 1011: 1006: 993: 991: 985: 984: 982: 981: 966: 965: 960: 955: 945: 943: 937: 936: 933: 932: 930: 929: 924: 918: 916: 912: 911: 909: 908: 903: 898: 892: 890: 884: 883: 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1199: 1198: 1196: 1185: 1180: 1178: 1173: 1171: 1166: 1165: 1159: 1157: 1153: 1150:article is a 1149: 1144: 1139: 1130: 1129: 1122: 1115: 1111: 1110: 1105: 1102: 1101: 1098: 1095: 1093: 1089: 1086: 1085: 1082: 1079: 1077: 1073: 1070: 1069: 1066: 1063: 1061: 1058: 1056: 1052: 1049: 1048: 1046: 1042: 1035: 1031: 1030: 1026: 1023: 1019: 1018: 1014: 1010: 1007: 1005: 1002: 1001: 1000: 999: 995: 994: 992: 990: 986: 980: 977: 976: 975: 974: 970: 964: 961: 959: 956: 954: 950: 947: 946: 944: 942: 938: 928: 925: 923: 920: 919: 917: 913: 907: 904: 902: 899: 897: 894: 893: 891: 889: 885: 879: 876: 874: 871: 870: 868: 866: 862: 859: 857: 853: 841: 838: 836: 833: 832: 830: 826: 823: 821: 818: 817: 815: 811: 808: 807: 805: 801: 798: 796: 793: 791: 788: 786: 783: 780: 778: 775: 774: 772: 769: 768: 766: 762: 756: 753: 751: 748: 746: 742: 741:Neurofilament 739: 738: 736: 732: 726: 722: 719: 718: 715: 711: 708: 707: 704: 701: 699: 695: 692: 691: 689: 685: 679: 676: 674: 671: 668: 664: 660: 656: 653: 650: 646: 643: 640: 636: 633: 630: 626: 623: 620: 616: 613: 610: 606: 603: 600: 596: 593: 590: 586: 583: 580: 576: 573: 570: 566: 563: 560: 556: 553: 550: 546: 543: 539: 536: 534: 531: 529: 526: 525: 524: 520: 516: 512: 508: 507:Keratinopathy 505: 504: 502: 498: 495: 493: 489: 477: 474: 472: 469: 467: 464: 462: 461:FG syndrome 2 459: 458: 457: 454: 450: 447: 445: 442: 441: 440: 437: 436: 434: 430: 420: 417: 416: 414: 412: 408: 402: 399: 397: 394: 393: 391: 389: 385: 379: 376: 374: 371: 370: 368: 366: 362: 356: 353: 351: 348: 346: 343: 341: 338: 336: 333: 331: 328: 327: 325: 323: 319: 313: 310: 308: 305: 303: 300: 298: 295: 294: 292: 290: 286: 283: 281: 277: 274: 272: 268: 263: 256: 251: 249: 244: 242: 237: 236: 233: 220: 216: 215: 211: 209: 205: 204: 200: 199: 196: 191: 187: 180: 171: 167: 162: 157: 153: 149: 146:(1): 146–53. 145: 141: 137: 130: 127: 122: 116: 112: 105: 102: 95: 91: 88: 86: 83: 81: 78: 77: 73: 71: 69: 68: 62: 60: 56: 48: 45: 43: 39: 34: 30: 25: 20: 1156:expanding it 1145: 1137: 1125: 1107: 1027: 1015: 996: 967: 856:Microtubules 475: 262:Cytoskeletal 212: 201: 143: 139: 129: 110: 104: 65: 63: 54: 53: 1088:plakophilin 1051:desmoplakin 1017:plakoglobin 771:Laminopathy 667:Monilethrix 515:keratoderma 388:Tropomyosin 280:Myofilament 47:Dermatology 1195:Categories 1104:centrosome 721:Peripherin 96:References 922:Tauopathy 511:keratosis 439:Fibrillin 42:Specialty 949:Spectrin 941:Membrane 782:Dunnigan 365:Troponin 170:20598277 74:See also 1072:plectin 989:Catenin 969:Ankyrin 865:Kinesin 773:: LMNA 456:Filamin 264:defects 219:C564554 161:2896768 59:macules 888:Dynein 816:LEMD3 694:Desmin 322:Myosin 307:DFNA20 208:300244 168:  158:  117:  1146:This 1044:Other 915:Other 806:LMNB 663:KRT86 659:KRT83 655:KRT81 645:KRT18 635:KRT17 625:KRT14 615:KRT13 605:KRT12 595:KRT10 545:KRT2E 432:Other 411:Titin 289:Actin 1152:stub 1109:PCNT 831:LBR 710:GFAP 585:KRT8 575:KRT5 565:KRT4 555:KRT3 538:IHCM 523:KRT1 214:MeSH 203:OMIM 166:PMID 115:ISBN 67:FLNA 1029:GAN 998:APC 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Index


Specialty
Dermatology
macules
FLNA
Corneodermatosseous syndrome
Osseous choristoma of the tongue
List of cutaneous conditions
ISBN
978-1-4160-2999-1
"Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene"
doi
10.1016/j.ajhg.2010.06.008
PMC
2896768
PMID
20598277
D
OMIM
300244
MeSH
C564554
v
t
e
Cytoskeletal
Microfilaments
Myofilament
Actin
Hypertrophic cardiomyopathy 11

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