Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Abstract excerpt

Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large population base. In this study, we describe the clinical phenotypes and genotypes of five unrelated Chinese Hermansky-Pudlak syndrome pedigrees following clinical observation...

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• Child
• Child, Preschool
• Hermanski-Pudlak Syndrome
• Intracellular Signaling Peptides and Proteins
• Membrane Proteins