Whole‐exome sequencing identified novel variants in CPLANE1 that causes oral‐facial‐digital syndrome Ⅵ by inducing primary cilia abnormality

Oral‐facial‐digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. In this study, we investigated a...

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Detalles Bibliográficos
Autores principales: Qian, Wen, Liu, Xinlei, Wang, Zhengrong, Xu, Yongjie, Zhang, Jingzhi, Li, Haizhi, Zhong, Qiang, Li, Chengcheng, Zhu, Liying, Zhou, Zunlun, Pan, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170817/
https://www.ncbi.nlm.nih.gov/pubmed/35582950
http://dx.doi.org/10.1111/jcmm.17326

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