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Article

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

Molecular genetics & genomic medicine - 1 Jul 2024

Serrano-González Joseline, Montes-Rodríguez Ingrid, Renta Jessicca Y, Rojas Ricardo, Cadilla Carmen L

Abstract excerpt

BACKGROUND: Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in Hermansky-Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets. METHODS: In this report,...

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PMID: 38994739
DOI: 10.1002/mgg3.2493
PMCID: PMC11240142

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