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Article

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.

American journal of medical genetics. Part A - 1 Aug 2015

Wilson Brian T, Omer Murwan, Hellens Stephen W, Zwolinski Simon A, Yates Laura M, Lynch Sally Ann

Abstract excerpt

We describe two patients with microdeletion 1p35.2, intrauterine growth retardation, small stature, hypermetropia, hearing impairment and developmental delay. Both patients have long, myopathic facies, with fine eyebrows, small mouths and micrognathia. We postulate a role for the histone deacetylase HDAC1 in the facial phenotype and suggest that deletion of KPNA6 may prevent transmission of the 1p35.2 deletion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25900906
DOI: 10.1002/ajmg.a.37114

Genes

HDAC1
KPNA6

Provenance

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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