Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

BACKGROUND: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, scoliosis, abnormal pinnae, muscular hypo...

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Detalles Bibliográficos
Autores principales: Hu, Lin, Li, Huanzheng, Sun, Guang, Wu, Ke, Luan, Zhaotang, Xiang, Yanbao, Tang, Shaohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123754/
https://www.ncbi.nlm.nih.gov/pubmed/33638605
http://dx.doi.org/10.1002/mgg3.1638

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