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Article

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome.

Genes - 20 Jul 2022

Chen Chonglin, Wang Ruixin, Yuan Yongguang, Li Jun, Yu Xinping

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive syndromic form of albinism, characterized by oculocutaneous albinism (OCA) and other systemic complications. The purpose of this study was to investigate patients with HPS-associated gene mutations and describe associated ocular and extraocular phenotypes. Fifty-four probands clinically diagnosed as albinism were enrolled. Ophthalmic examinations and...

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Identifiers

PMID: 35886065
DOI: 10.3390/genes13071283
PMCID: PMC9321923

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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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