✦ LIBER ✦

A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

✍ Scribed by David A. Stevenson; John C. Carey

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 244 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31945

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple “marker” chromosomes: A novel c

Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies

✍ Tozzi, C. ;Calvieri, F. ;Alesi, L. ;Neri, G. ;Optiz, John M. ;Reynolds, James F. 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 422 KB 👁 2 views

Identical multiple congenital anomalies/

Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father

✍ Pai, G. S. ;Rogers, J. Felix ;Sommer, Annemarie ;Opitz, John M. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 410 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 👁 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