NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

Abstract Background Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photophobia, and strabismus. OCA type 1 (OCA1) and type 2...

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Bibliographic Details
Main Authors: Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu
Format: Article
Language:English
Published: BMC 2022-04-01
Series:BMC Genomics
Subjects:
Oculocutaneous albinism
TYR
OCA2
Targeted NGS
Medical genomics
Nucleotide variations
Online Access:https://doi.org/10.1186/s12864-022-08597-3

Internet

https://doi.org/10.1186/s12864-022-08597-3

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