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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |