Article
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
BMC ophthalmology - 14 Aug 2024
Khan Jahangir, Asif Saaim, Ghani Shamsul, Khan Hamid, Arshad Muhammad Waqar, Khan Shujaat Ali, Lin Siying, Baple Emma L, Salter Claire, Crosby Andrew H, Rawlins Lettie, Shabbir Muhammad Imran
Abstract excerpt
BACKGROUND: Oculocutaneous albinism (OCA) is a genetically heterogeneous condition that is associated with reduced or absent melanin pigment in the skin, hair, and eyes, resulting in reduced vision, high sensitivity to light, and rapid and uncontrolled eye movements. To date, seventeen genes have been associated with OCA including syndromic and non-syndromic forms of the condition. METHODS: Whole exome sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.