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Article

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

PloS one - 1 Jan 2015

Niranjan Tejasvi S, Skinner Cindy, May Melanie, Turner Tychele, Rose Rebecca, Stevenson Roger, Schwartz Charles E, Wang Tao

Abstract excerpt

X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID genes are expected to be rare and even private to individual families. To systematically identify these XLID genes, we...

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

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Share to Genes, X-Linked

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Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 25679214
DOI: 10.1371/journal.pone.0116454
PMCID: PMC4332666

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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