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Article

Molecular characterization of a series of 990 index patients with albinism.

Pigment cell & melanoma research - 1 Jul 2018

Lasseaux Eulalie, Plaisant Claudio, Michaud Vincent, Pennamen Perrine, Trimouille Aurelien, Gaston Laetitia, Monfermé Solène, Lacombe Didier, Rooryck Caroline, Morice-Picard Fanny, Arveiler Benoît

Abstract excerpt

Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted...

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PMID: 29345414
DOI: 10.1111/pcmr.12688

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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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