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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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Detalles Bibliográficos
Autores principales:	Huang, Li, Sun, Limei, Wang, Zhirong, Li, Songshan, Chen, Chonglin, Luo, Xiaoling, Ding, Xiaoyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7817241/ https://www.ncbi.nlm.nih.gov/pubmed/33520300 http://dx.doi.org/10.1155/2021/6751857

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