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Article

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

The New England journal of medicine - 30 Apr 1998

Gahl W A, Brantly M, Kaiser-Kupfer M I, Iwata F, Hazelwood S, Shotelersuk V, Duffy L F, Kuehl E M, Troendle J, Bernardini I

Abstract excerpt

BACKGROUND: Hermansky-Pudlak syndrome is characterized by oculocutaneous albinism, a storage-pool deficiency, and lysosomal accumulation of ceroid lipofuscin, which causes pulmonary fibrosis and granulomatous colitis in some cases. All identified affected patients in northwest Puerto Rico are homozygous for a 16-bp duplication in exon 15 of a recently cloned gene, HPS. We compared the clinical and laboratory...

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Identifiers

PMID: 9562579
DOI: 10.1056/NEJM199804303381803

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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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Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).PMID 9562579Read ↗

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Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.Semantic proximity Read ↗

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Pulmonary Fibrosis in Hermansky-Pudlak SyndromeSemantic proximity Read ↗

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.Semantic proximity Read ↗

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.Semantic proximity Read ↗

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.Semantic proximity Read ↗

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