Ontology highlight
ABSTRACT:
SUBMITTER: Le Goff C
PROVIDER: S-EPMC4974068 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Le Goff Carine C Rogers Curtis C Le Goff Wilfried W Pinto Graziella G Bonnet Damien D Chrabieh Maya M Alibeu Olivier O Nistchke Patrick P Munnich Arnold A Picard Capucine C Cormier-Daire Valérie V
American journal of human genetics 20160714 2
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in age from 5 to 37 years. MAP3K7 encodes transforming growth factor β ...[more]