Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism

Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including Hermansky-Pudlak syndrome 6 (HPS6), are distinguished by their genetic cause and pigmentation pattern. HPS6 is characterized by OC...

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Main Authors: Karim, Sajjad, Saharti, Samah, Alganmi, Nofe, Mirza, Zeenat, Alfares, Ahmed, Turkistany, Shereen, Al-Attas, Manal, Noureldin, Hend, Al Sakkaf, Khadega, Abusamra, Heba, Al-Qahtani, Mohammed, Abuzenadah, Adel
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Language:English
Published: MDPI 2021
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC8779141/
https://pubmed.ncbi.nlm.nih.gov/35054407
http://dx.doi.org/10.3390/life12010014
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https://pmc.ncbi.nlm.nih.gov/articles/PMC8779141/
https://pubmed.ncbi.nlm.nih.gov/35054407
http://dx.doi.org/10.3390/life12010014

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