Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3

Abstract Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients are at a significant risk of develo...

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Bibliographic Details
Main Authors: Gabriel Santos Malave, Natalio J. Izquierdo, Nestor P. Sanchez
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hermansky–Pudlak syndrome
Albinism
Medical dermatology
Rare disease
Genetics
Online Access:https://doi.org/10.1186/s13023-022-02464-w

Internet

https://doi.org/10.1186/s13023-022-02464-w

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