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Article

KIAA2022 nonsense mutation in a symptomatic female.

American journal of medical genetics. Part A - 1 Mar 2016

Farach Laura S, Northrup Hope

Abstract excerpt

Mutations in the KIAA2022 gene have been implicated in non-syndromic X-linked intellectual disability. Thus far, all carrier females reported have been unaffected and genotype-phenotype correlations have not been described. Herein, we report a de novo KIAA2022 nonsense mutation in a 17-year-old female with short stature, microcephaly, severe intellectual disability, poor speech, epilepsy, and autistic behavior....

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Source

Identifiers

PMID: 26576034
DOI: 10.1002/ajmg.a.37479

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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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