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Article

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

American journal of medical genetics. Part A - 1 Apr 2013

Perlman Seth J, Kulkarni Shashikant, Manwaring Linda, Shinawi Marwan

Abstract excerpt

A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded AKT3 and implicated ZNF238 and/or CEP170 as genes causative of corpus callosum anomalies in patients with 1q43-1q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and...

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Share to Agenesis of Corpus Callosum
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

Share to Comparative Genomic Hybridization

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 23494996
DOI: 10.1002/ajmg.a.35779

Genes

AKT3

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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