Mowat-Wilson syndrome

Author:

Garavelli Livia,Mainardi Paola Cerruti

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference50 articles.

1. Mowat DR, Croaker GDH, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998, 35: 617-623.

2. Wakamatsu N, Yasukazu Y, Kenichiro Y, Takao O, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M: Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001, 27: 369-370. 10.1038/86860.

3. Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M: Loss-of-function mutations in SIP1 Smad interacting protein 1 results in a syndromic Hirschsprung disease. Hum Mol Gene. 2001, 10: 1503-1510. 10.1093/hmg/10.14.1503.

4. Cerruti-Mainardi P, Garavelli L, Pastore G, Virdis R, Pedori S, Godi M, Provera S, Rauch A, Zweier C, Castronovo C, Zollino M, Banchini G, Bernasconi S, Neri G: Mowat-Wilson syndrome and mutation in the Zinc Finger Homeo Box 1B Gene: a new syndrome probably under-diagnosed. Italian J Pediatr. 2005, 31: 116-125.

5. Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A: "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 homeobox 1 B gene (ZFHX1B). Am J Med Genet. 2002, 108 (3): 177-181. 10.1002/ajmg.10226.

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