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Volumn 13, Issue 3, 2007, Pages 122-124

Mowat-Wilson syndrome in a Moroccan consanguineous family

Author keywords

Dysmorphia; Mowat Wilson syndrome; Severe mental retardation; ZFHX1B gene

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CONGENITAL HEART DISEASE; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; EPILEPSY; FACE MALFORMATION; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; MALE; MENTAL DEFICIENCY; MOROCCO; MOWAT WILSON SYNDROME; PRESCHOOL CHILD; UROGENITAL TRACT MALFORMATION; ZFHX1B GENE;

EID: 39149091018     PISSN: 09716866     EISSN: None     Source Type: Journal    
DOI: 10.4103/0971-6866.38988     Document Type: Article
Times cited : (3)

References (10)
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  • 6
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    • Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B): Report of three Italian cases with hypospadias and review
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    • (2005) Horm Res , vol.63 , pp. 187-192
    • Garavelli, L.1    Cerruti-Mainardi, P.2    Virdis, R.3    Pedori, S.4    Pastore, G.5    Godi, M.6
  • 7
    • 34247560106 scopus 로고    scopus 로고
    • Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
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    • (2007) Am J Hum Genet , vol.80 , pp. 988-993
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  • 8
    • 34247641061 scopus 로고    scopus 로고
    • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    • Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007;80:994-1001.
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  • 9
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    • A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    • Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, et al. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A 2006;140:1223-7.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.