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Article

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

European journal of human genetics : EJHG - 1 Jun 2024

Zhu Yunlu, Bai Yun, Yan Wannian, Li Ming, Wu Fei, Xu Mingyuan, Wu Nanhui, Ge HongSong, Liu Yeqiang

Abstract excerpt

Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic...

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Identifiers

PMID: 38627542
DOI: 10.1038/s41431-024-01573-3
PMCID: PMC11153616

Genes

CCDC91

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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