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Article

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

American journal of human genetics - 7 Mar 2013

Grønskov Karen, Dooley Christopher M, Østergaard Elsebet, Kelsh Robert N, Hansen Lars, Levesque Mitchell P, Vilhelmsen Kaj, Møllgård Kjeld, Stemple Derek L, Rosenberg Thomas

Abstract excerpt

Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23395477
DOI: 10.1016/j.ajhg.2013.01.006
PMCID: PMC3591853

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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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