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Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Genes - 5 Jan 2023

Zaman Qaiser, Sadeeda, Anas Muhammad, Rehman Gauhar, Khan Qadeem, Iftikhar Aiman, Ahmad Mashal, Owais Muhammad, Ahmad Ilyas, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Jelani Musharraf, Naseer Muhammad Imran

Abstract excerpt

Background: 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 of the patients show albinism and a bleeding diathesis; additional features may present depending on the nature of a defective protein...

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PMID: 36672886
DOI: 10.3390/genes14010145
PMCID: PMC9858993

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