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Article

Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.

Ophthalmic research - 1 Jan 2024

Zhou Biting, Yang Juhua, Bai Yue, Li Yufei, Chen Shuyang, Chen Xiaole, Zhang Nanwen, Cao Zongfu, Zhu Yihua, Xu Yingying

Abstract excerpt

INTRODUCTION: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disease characterized by ocular albinism (OA) or oculocutaneous albinism (OCA), platelet dysfunction, and other symptoms. This study aimed to analyze the molecular defect in two Chinese families with suspected OA, as well as to investigate the profile of HPS6 variants and their genotype-phenotype correlations. METHODS: Seven members from...

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PMID: 38091959
DOI: 10.1159/000535788

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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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