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Mowat-Wilson sendromu

Kalıtsal - AD

Gelişme geriliği

Mikrosefali

Kaşlar kalın

Hipertelorizm

Gözler çukurda

Strabismus

Ptozis

Koloboma

İri-belirgin burun yapısı

Büzülmüş ağız görünümü

Yarık damak

Erüpsiyon aksamaları

Dişlerde malpozisyon

Kardiyovasküler anomaliler

Süpernümerere meme ucu

GİS bulguları

Erkeklerde dış genital organ bulguları

Ayak anomalileri

Beyinde malformasyonlar

Hipotoni

Epilepsi

Psikomotor gerilik

 

  • Zweier C, Albrecht B, Mitulla B, et al. 'Mowat-Wilson' syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. American Journal of Medical Genetics, 108: 177-181, 2002

  • Zweier C, Temple IK, Beemer F, et al. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. Journal of Medical Genetics, 40: 601-605, 2003

  • Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. Journal of Medical Genetics, 40: 305-310, 2003

  • Zweier C, Thiel CT, Dufke A, et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. Europ. J. Med. Genet. 48: 97-111, 2005

  • Zweier C, Horn D, Kraus C, Rauch A. Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. American Journal of Medical Genetics, 140A: 869-872, 2006

  • Cordelli DM, Garavelli L, Savasta S, et al. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. American Journal of Medical Genetics, 161A: 273-284, 2013