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Hydranencephaly with abnormal genitalia

MedGen UID:
337524
Concept ID:
C1846172
Disease or Syndrome
Synonym: Hydranencephaly and Abnormal Genitalia
 
OMIM®: 300215; 300382

Professional guidelines

PubMed

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
Hum Mutat 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. PMID: 14722918

Recent clinical studies

Etiology

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB
Hum Mutat 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. PMID: 14722918

Diagnosis

Zaker E, Nouri N, Movahedinia M, Dadbinpour A, Vahidi Mehrjardi MY
Mol Genet Genomic Med 2024 Feb;12(2):e2412. doi: 10.1002/mgg3.2412. PMID: 38400608Free PMC Article

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