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Article

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

American journal of human genetics - 10 Jun 2011

Fröjmark Anne-Sophie, Schuster Jens, Sobol Maria, Entesarian Miriam, Kilander Michaela B C, Gabrikova Dana, Nawaz Sadia, Baig Shahid M, Schulte Gunnar, Klar Joakim, Dahl Niklas

Abstract excerpt

Inherited and isolated nail malformations are rare and heterogeneous conditions. We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals from both families showed an...

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Identifiers

PMID: 21665003
DOI: 10.1016/j.ajhg.2011.05.013
PMCID: PMC3113248

Genes

FZD6

Provenance

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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