Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes

<i>Background:</i> Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3, BLOC1, BLOC2, and BLOC3. Most...

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Bibliographic Details
Main Authors: Qaiser Zaman, Sadeeda, Muhammad Anas, Gauhar Rehman, Qadeem Khan, Aiman Iftikhar, Mashal Ahmad, Muhammad Owais, Ilyas Ahmad, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Musharraf Jelani, Muhammad Imran Naseer
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
<i>HPS3</i>
<i>HPS4</i>
whole-exome sequencing
molecular diagnostics
Hermansky–Pudlak syndrome
Online Access:https://www.mdpi.com/2073-4425/14/1/145

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