Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puer...

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Bibliographic Details
Main Authors: Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Muller Journal of Medical Sciences and Research
Subjects:
Online Access:http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=74;epage=76;aulast=Panchadhyayee