Article
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Gene - 5 Feb 2024
Zaman Qaiser, Khan Jamshid, Ahmad Mashal, Khan Hamza, Chaudhary Hammad Tufail, Rehman Gauhar, Rahman Obaid Ur, Shah Muhammad M, Hussain Javeria, Jamal Qaisar, Khan Bakht Tareen, Khan Muhammad A, Sadeeda, Sahar Kalsoom, Idrees Muhammad, Ahmad Raees, Faisal Mohammad Shah, Khan Muhammad Ismail, Khisroon Muhammad, Abdulkareem Angham Abdulrhman, Lee Eugene, Ryu Seung Woo, Bibi Nousheen, Muthaffar Osama Yousef, Jelani Musharraf, Naseer Muhammad Imran
Abstract excerpt
BACKGROUND: Oculocutaneous albinism (OCA) is a group of skin depigmentation disorders. Clinical presentation of OCA includes defects in melanocyte differentiation, melanin biosynthesis, and melanosome maturation and transport. OBJECTIVES: A molecular diagnostics study of families presenting oculocutaneous albinism. METHODS: In this study, 17 consanguineous OCA families consisting of 93 patients were investigated....
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