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Article

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

American journal of human genetics - 8 Aug 2013

Piton Amélie, Redin Claire, Mandel Jean-Louis

Abstract excerpt

Because of the unbalanced sex ratio (1.3-1.4 to 1) observed in intellectual disability (ID) and the identification of large ID-affected families showing X-linked segregation, much attention has been focused on the genetics of X-linked ID (XLID). Mutations causing monogenic XLID have now been reported in over 100 genes, most of which are commonly included in XLID diagnostic gene panels. Nonetheless, the boundary...

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Share to Chromosomes, Human, X
Share to Exome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Source

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Identifiers

PMID: 23871722
DOI: 10.1016/j.ajhg.2013.06.013
PMCID: PMC3738825

Genes

AGTR2
ARHGEF6
CCDC22
CLIC2
FRMPD4
HCFC1
IGBP1
KLF8
MAGT1
MAOA
NAA10
NLGN3
RPL10
SHROOM4
ZCCHC12
ZDHHC15
ZNF41
ZNF81

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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