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Article

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

Molecular genetics & genomic medicine - 1 May 2022

Zhang Zhao, Lu Yu, Cao Jing-Yuan, Wang Li, Li Lin-Ke, Wang Chao, Ye Xuan, Ji Yi-Ming, Tu Lin-Yi, Sun Yi

Abstract excerpt

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 audiological examination of the family members were performed. DNA samples were extracted from the family members. The...

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PMID: 35332702
DOI: 10.1002/mgg3.1933
PMCID: PMC9034678

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Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.PMID 35332702Read ↗

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