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Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease

BACKGROUND: Previous studies of individuals with hereditary or sporadic congenital heart disease (CHD) have provided strong evidence for a genetic basis for CHD. The aim of this study was to identify novel pathogenic genes and variants in a Chinese CHD family. METHODS: Three generations of a family...

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Detalles Bibliográficos
Autores principales:	Gong, Li, Wang, Chunyan, Xie, Haiyang, Gao, Jun, Li, Tengyan, Qi, Shenggui, Wang, Binbin, Wang, Jing
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/PMC9034670/ https://www.ncbi.nlm.nih.gov/pubmed/35218327 http://dx.doi.org/10.1002/mgg3.1909

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