Article
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
American journal of medical genetics. Part A - 1 Oct 2017
Helm Benjamin M, Powis Zoe, Prada Carlos E, Casasbuenas-Alarcon Olga L, Balmakund Tonya, Schaefer G B, Kahler Stephen G, Kaylor Julie, Winter Susan, Zarate Yuri A, Schrier Vergano Samantha A
Abstract excerpt
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.