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Article

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

American journal of medical genetics. Part A - 1 Sept 2014

Londin Eric R, Adijanto Jeffrey, Philp Nancy, Novelli Antonio, Vitale Emilia, Perria Chiara, Serra Gigliola, Alesi Viola, Surrey Saul, Fortina Paolo

Abstract excerpt

X-linked intellectual disability is the most common form of cognitive disability in males. Syndromic intellectual disability encompasses cognitive deficits with other medical and behavioral manifestations. Recently, a large family with a novel form of syndromic X-linked intellectual disability was characterized. Eight of 24 members of the family are male and had cognitive dysfunction, short stature, aphasia,...

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Identifiers

PMID: 24898194
DOI: 10.1002/ajmg.a.36629
PMCID: PMC4404493

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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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