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Article

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Annals of human genetics - 1 May 2018

Alfares Ahmed, Alhufayti Ibtihal, Alsubaie Lamia, Alowain Mohammed, Almass Rawan, Alfadhel Majid, Kaya Namik, Eyaid Wafaa

Abstract excerpt

INTRODUCTION: Primary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory subunit associated protein 2 (CDK5RAP2) and characterized by reduced head circumference (<5th percentile) with additional phenotypes varying from pigmentary abnormalities to sensorineural hearing loss. Until now, congenital cataracts have not been reported...

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Identifiers

PMID: 29271474
DOI: 10.1111/ahg.12232

Genes

CDK5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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