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

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...

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Bibliographic Details
Main Authors: Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4880340?pdf=render

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http://europepmc.org/articles/PMC4880340?pdf=render

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