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Article

Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.

Journal of medical genetics - 1 Jun 2014

Ramot Yuval, Molho-Pessach Vered, Meir Tomer, Alper-Pinus Ruslana, Siam Ihab, Tams Spiro, Babay Sofia, Zlotogorski Abraham

Abstract excerpt

BACKGROUND: The combination of palmoplantar keratoderma and woolly hair is uncommon and reported as part of Naxos and Carvajal syndromes, both caused by mutations in desmosomal proteins and associated with cardiomyopathy. We describe two large consanguineous families with autosomal-recessive palm...

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Identifiers

PMID: 24671081
DOI: 10.1136/jmedgenet-2014-102346

Genes

SRC
VDR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24671081-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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