Missense mutation R338W in ARHGEF9 in a family with X-linked intellectual disability with variable macrocephaly and macro-orchidism

Missense mutation R338W in ARHGEF9 in a family with X-linked intellectual disability with variable macrocephaly and macro-orchidism

Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation. Although in many cases either chromosomal linkage data or knowledge of the >100 existing XLID genes has assisted mutation discovery,...

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Bibliographic Details
Main Authors: Philip eLong, Melanie M May, Victoria M James, Simone eGranno, John P Johnson, Patrick eTarpey, Roger E Stevenson, Kirsten eHarvey, Charles E Schwartz, Robert J Harvey
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-01-01
Series:Frontiers in Molecular Neuroscience
Subjects:
gephyrin
collybistin
PH domain
XLID
ARHGEF9
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnmol.2015.00083/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnmol.2015.00083/full

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