✦ LIBER ✦

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

✍ Scribed by Williams, Stephen R; Mullegama, Sureni V; Rosenfeld, Jill A; Dagli, Aditi I; Hatchwell, Eli; Allen, William P; Williams, Charles A; Elsea, Sarah H

Book ID: 109849064
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 448 KB
Volume: 18
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2009.199

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

6p21.3 microdeletion involving the SYNGA

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

✍ Writzl, Karin; Knegt, Alida C. 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB

Chromosomal loss of 3q26.3-3q26.32, invo

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

✍ Alison Millson; Danielle LaGrave; Mary J.H. Willis; Leslie R. Rowe; Elaine Lyon; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB 👁 1 views

## Abstract Neuroligin 1 (__NLGN1__) is one of five members of the neuroligin gene family and may represent a candidate gene for neurological disorders, as members of this family are involved in formation and remodeling of central nervous system synapses. __NLGN1__ is expressed predominantly in the