Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Camptodactyly is a digit deformity characterized by permanent flexion contracture of one or both fifth fingers at the proximal interphalangeal joints. Though over 60 distinct types of syndromic camptodactyly have been described, only one disease locus (3q11.2-q13.12) for nonsyndromic camptodactyly h...

Descripción completa

Detalles Bibliográficos
Autores principales: Deng, Hao, Deng, Sheng, Xu, Hongbo, Deng, Han-Xiang, Chen, Yulan, Yuan, Lamei, Deng, Xiong, Yang, Shengbo, Guan, Liping, Zhang, Jianguo, Yuan, Hong, Guo, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880340/
https://www.ncbi.nlm.nih.gov/pubmed/27223613
http://dx.doi.org/10.1371/journal.pone.0155180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880340/
https://www.ncbi.nlm.nih.gov/pubmed/27223613
http://dx.doi.org/10.1371/journal.pone.0155180

Ejemplares similares