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Acampomelic campomelic dysplasia with autosomal sex reversal

MedGen UID:
762458
Concept ID:
C3549544
Disease or Syndrome
Synonym: ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
 
OMIM®: 114290; 608160

Professional guidelines

PubMed

Hossain N, Igawa T, Suzuki M, Tazawa I, Nakao Y, Hayashi T, Suzuki N, Ogino H
Dev Growth Differ 2023 Oct;65(8):481-497. Epub 2023 Aug 17 doi: 10.1111/dgd.12884. PMID: 37505799

Recent clinical studies

Etiology

Foster JW
Acta Paediatr Jpn 1996 Aug;38(4):405-11. doi: 10.1111/j.1442-200x.1996.tb03515.x. PMID: 8840554
Prior HM, Walter MA
Mol Med 1996 Jul;2(4):405-12. PMID: 8827711Free PMC Article
Ramkissoon Y, Goodfellow P
Curr Opin Genet Dev 1996 Jun;6(3):316-21. doi: 10.1016/s0959-437x(96)80008-6. PMID: 8791510
Mansour S, Hall CM, Pembrey ME, Young ID
J Med Genet 1995 Jun;32(6):415-20. doi: 10.1136/jmg.32.6.415. PMID: 7666392Free PMC Article
Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID
Am J Hum Genet 1995 Nov;57(5):1028-36. PMID: 7485151Free PMC Article

Diagnosis

Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091
Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M
Genet Couns 2011;22(1):49-53. PMID: 21614988
Ramkissoon Y, Goodfellow P
Curr Opin Genet Dev 1996 Jun;6(3):316-21. doi: 10.1016/s0959-437x(96)80008-6. PMID: 8791510
Mansour S, Hall CM, Pembrey ME, Young ID
J Med Genet 1995 Jun;32(6):415-20. doi: 10.1136/jmg.32.6.415. PMID: 7666392Free PMC Article

Prognosis

Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M
Genet Couns 2011;22(1):49-53. PMID: 21614988
Pop R, Zaragoza MV, Gaudette M, Dohrmann U, Scherer G
Hum Genet 2005 Jun;117(1):43-53. Epub 2005 Apr 2 doi: 10.1007/s00439-005-1295-y. PMID: 15806394

Clinical prediction guides

Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091
Ruan W, Zhu S, Wang H, Xu F, Deng H, Ma Y, Lai M
Mol Cancer 2010 Oct 26;9:281. doi: 10.1186/1476-4598-9-281. PMID: 20977730Free PMC Article
Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC
J Formos Med Assoc 2006 Dec;105(12):1013-6. doi: 10.1016/S0929-6646(09)60286-2. PMID: 17185244
Giordano J, Prior HM, Bamforth JS, Walter MA
Am J Med Genet 2001 Jan 15;98(2):176-81. doi: 10.1002/1096-8628(20010115)98:2<176::aid-ajmg1027>3.0.co;2-q. PMID: 11223854
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH
Hum Mol Genet 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. PMID: 8894698

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