๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

โœ Scribed by Yumi Takahashi; Kana Hosoki; Masafumi Matsushita; Makoto Funatsuka; Kayoko Saito; Hiroshi Kanazawa; Yu-ichi Goto; Shinji Saitoh


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
506 KB
Volume
156
Category
Article
ISSN
1552-4841

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A new X-linked syndrome with agenesis of
โœ Graham Jr., John M. ;Wheeler, Patricia ;Tackels-Horne, Darci ;Lin, Angela E. ;Ha ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 208 KB ๐Ÿ‘ 3 views

## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have lowโ€set cupped ears with sensorineural hearing loss, normal phall