Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1 , TBX4, and RBM10, have been associated with CTEV. We aimed to determine the disease-causing...

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Veröffentlicht in:	Human genetics 2016-10, Vol.135 (10), p.1181-1189
Hauptverfasser:	Yang, Haiou, Zheng, Zhaojing, Cai, Haiqing, Li, Huimin, Ye, Xingchen, Zhang, Xiaoqing, Wang, Zhigang, Fu, Qihua
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence - genetics Biomedical and Life Sciences Biomedicine Child Clubfoot Clubfoot - genetics Clubfoot - physiopathology Congenital diseases Disease DNA sequencing Exome - genetics Female Filamins - genetics Foot diseases Gene Expression Regulation - genetics Gene Function Genes Genetic aspects Genetic disorders Genetic Predisposition to Disease Genetic testing Genomes Genotype HEK293 Cells High-Throughput Nucleotide Sequencing Human Genetics Humans Male Metabolic Diseases Molecular Medicine Mutation Mutation, Missense - genetics Original Investigation Orthopedics Pathogenesis Pediatrics Pedigree Protein expression Proteins
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