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