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

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 extra...

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Detalles Bibliográficos
Autores principales:	Chen, Chonglin, Wang, Ruixin, Yuan, Yongguang, Li, Jun, Yu, Xinping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321923/ https://www.ncbi.nlm.nih.gov/pubmed/35886065 http://dx.doi.org/10.3390/genes13071283

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