๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation

โœ Scribed by Elena W.Y. Hsieh; Karin Vargervik; Anne M. Slavotinek


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
155 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Clinical spectrum and molecular diagnosi
โœ Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 305 KB ๐Ÿ‘ 2 views

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13