Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism-Reference-Cited by-同舟云学术

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

Published:2011-04-11 Issue:5 Volume:155 Page:1109-1114
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Franek Karl J.,Butler Julia,Johnson John,Simensen Richard,Friez Michael J.,Bartel Frank,Moss Tonya,DuPont Barbara,Berry Katherine,Bauman Margaret,Skinner Cindy,Stevenson Roger E.,Schwartz Charles E.

Funder

NICHD

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33833/fullpdf

Reference23 articles.

1. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis;Bahi;Hum Mol Genet,2003

2. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism;Bhat;Clin Genet,2008

3. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation;Carrie;Nature Genet,1999