Hermansky Pudlak Syndrome Type 2:A Rare Case Report

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000. It is a rare genetic disorder with platelet dysfun...

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Bibliographic Details
Main Authors: Yogesh Chhaparwal, Mathangi Kumar, Shubha Chhaparwal
Format: Article
Language:English
Published: Krishna Institute of Medical Sciences University 2020-07-01
Series:Journal of Krishna Institute of Medical Sciences University
Subjects:
Online Access:https://www.jkimsu.com/jkimsu-vol9no3/JKIMSU,%20Vol.%209,%20No.%203,%20July-September%202020%20Page%2097-101.pdf