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

Internet

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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