Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-described. We aim to decipher the genetic and...

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Detalles Bibliográficos
Autores principales: Sun, Liying, Huang, Yingzhao, Zhao, Sen, Zhong, Wenyao, Shi, Jile, Guo, Yang, Zhao, Junhui, Xiong, Ge, Yin, Yuehan, Chen, Zefu, Zhang, Nan, Zhao, Zongxuan, Li, Qingyang, Chen, Dan, Niu, Yuchen, Li, Xiaoxin, Qiu, Guixing, Wu, Zhihong, Zhang, Terry Jianguo, Tian, Wen, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960307/
https://www.ncbi.nlm.nih.gov/pubmed/35360850
http://dx.doi.org/10.3389/fgene.2022.804202

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