Delineating Novel and Known Pathogenic Variants in <i>TYR</i>, <i>OCA2</i> and <i>HPS-1</i> Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families

Delineating Novel and Known Pathogenic Variants in <i>TYR</i>, <i>OCA2</i> and <i>HPS-1</i> Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are <i>TYR</i> and <i>OCA2</i> and <i>HSP1</i> is in th...

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Bibliographic Details
Main Authors: Muhammad Shakil, Abida Akbar, Nazish Mahmood Aisha, Intzar Hussain, Muhammad Ikram Ullah, Muhammad Atif, Haiba Kaul, Ali Amar, Muhammad Zahid Latif, Muhammad Atif Qureshi, Saqib Mahmood
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
oculocutaneous albinism (OCA)
Pakistani families
pathogenic variants
<i>TYR</i>
<i>OCA2</i>
<i>HSP</i>
Online Access:https://www.mdpi.com/2073-4425/13/3/503

Internet

https://www.mdpi.com/2073-4425/13/3/503

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