Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype

Hermansky-Pudlak syndrome (HPS) − characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis–is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lame...

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Bibliographic Details
Main Authors: Juliana Perez Botero, Dong Chen, Julie A. Majerus, Lea M. Coon, Rong He, Deepti M. Warad, Rajiv K. Pruthi, William L. Nichols
Format: Article
Language:English
Published: Taylor & Francis Group 2018-01-01
Series:Platelets
Subjects:
albinism
blood platelets
hematology
hemorrhage
heredity
Online Access:http://dx.doi.org/10.1080/09537104.2017.1361019

Internet

http://dx.doi.org/10.1080/09537104.2017.1361019

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