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

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 sho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/
https://www.ncbi.nlm.nih.gov/pubmed/36672886
http://dx.doi.org/10.3390/genes14010145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/
https://www.ncbi.nlm.nih.gov/pubmed/36672886
http://dx.doi.org/10.3390/genes14010145

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