Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome

BACKGROUND: Bardet–Biedl syndrome (BBS) is a rare multisystem developmental disorder. In this study, we report the genetic causes and clinical manifestations in two Chinese families with BBS. MATERIALS AND METHODS: Two families were recruited in this study. Family A was a four-generation family with...

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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Huang, Li, Sun, Limei, Wang, Zhirong, Li, Songshan, Chen, Chonglin, Luo, Xiaoling, Ding, Xiaoyan
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7817241/
https://ncbi.nlm.nih.gov/pubmed/33520300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2021/6751857
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