Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case

Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case

Abstract Background Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants. Objective To report a Chinese patient suspected of oculocutaneous albinism and...

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Bibliographic Details
Main Authors: Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Chinese
oculocutaneous albinism
sanger sequencing
SLC45A2
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2385

Internet

https://doi.org/10.1002/mgg3.2385

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