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Article

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Human mutation - 1 Nov 2006

Schreyer-Shafir Nira, Huizing Marjan, Anikster Yair, Nusinker Ziva, Bejarano-Achache Idit, Maftzir Genia, Resnik Luba, Helip-Wooley Amanda, Westbroek Wendy, Gradstein Libe, Rosenmann Ada, Blumenfeld Anat

Abstract excerpt

An extended, highly consanguineous Israeli Bedouin family with at least 20 individuals exhibiting a unique phenotype of oculocutaneous albinism (OCA) was identified. All known OCA genes were excluded in this family. Electron microscopic analysis of platelets revealed absence of dense bodies, suggesting a diagnosis of Hermansky-Pudlak syndrome (HPS). HPS is a rare autosomal recessive disorder of lysosome-related...

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Source

Identifiers

PMID: 17041891
DOI: 10.1002/humu.9463

Genes

HPS6
HPS1

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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