✦ LIBER ✦

Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation

✍ Scribed by Julie McGaughran; Stephen Sinnott; Florence Dastot-Le Moal; Meredith Wilson; David Mowat; Bridget Sutton; Michel Goossens

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 106 KB
Volume: 137A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30896

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Recurrence of Mowat–Wilson syndrome in s

Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

✍ Massimiliano Cecconi; Francesca Forzano; Livia Garavelli; Chiara Pantaleoni; Mar 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB 👁 1 views

A missense mutation in the ZFHX1B gene a

A missense mutation in the ZFHX1B gene associated with an atypical Mowat–Wilson syndrome phenotype

✍ Wolfram Heinritz; Christiane Zweier; Ursula G. Froster; Sibylle Strenge; Annegre 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Hirschsprung disease, mental retardation

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

✍ Garavelli, L. ;Donadio, A. ;Zanacca, C. ;Banchini, G. ;Della Giustina, E. ;Berta 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 1 views

?Mowat-Wilson? syndrome with and without

?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

✍ Zweier, Christiane ;Albrecht, Beate ;Mitulla, Beate ;Behrens, Rolf ;Beese, Maike 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB 👁 1 views

## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with “syndromic Hirschsprung disease” with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinc