Index finger hyperphalangy and multiple anomalies: Catel-manzke syndrome?

?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 👁 2 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