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Article

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

The Journal of investigative dermatology - 1 Oct 2011

Cullinane Andrew R, Vilboux Thierry, O'Brien Kevin, Curry James A, Maynard Dawn M, Carlson-Donohoe Hannah, Ciccone Carla, Markello Thomas C, Gunay-Aygun Meral, Huizing Marjan, Gahl William A

Abstract excerpt

We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky-Pudlak syndrome type 2. This was ruled out because of the presence of platelet δ-granules and absence of...

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Identifiers

PMID: 21677667
DOI: 10.1038/jid.2011.157
PMCID: PMC3174312

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21677667-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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