Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

OBJECTIVE: Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high‐throughput sequencing approach. METHODS: The medical history investigation, physical examination, imaging examination, and audiologi...

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Detalles Bibliográficos
Autores principales: Zhang, Zhao, Lu, Yu, Cao, Jing‐Yuan, Wang, Li, Li, Lin‐Ke, Wang, Chao, Ye, Xuan, Ji, Yi‐Ming, Tu, Lin‐Yi, Sun, Yi
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/PMC9034678/
https://www.ncbi.nlm.nih.gov/pubmed/35332702
http://dx.doi.org/10.1002/mgg3.1933

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034678/
https://www.ncbi.nlm.nih.gov/pubmed/35332702
http://dx.doi.org/10.1002/mgg3.1933

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