Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs

Author:

Hsu Rai-Hseng,Hwu Wuh-Liang,Chen Ming,Chung I-Fang,Peng Steven Shinn-Forng,Chen Chen-YangORCID,Cheng Wei-Chung,Chien Yin-Hsiu,Lee Ni-Chung

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference7 articles.

1. Angular deformities of the lower limb in children;Espandar;Asian J Sports Med,2010

2. The skeletal dysplasias;Krakow;Genet Med,2010

3. A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing;Zhang;J Hum Genet,2015

4. Online Mendelian Inheritance in Man, OMIM®. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; Available at: https://omim.org/. Accessed April 23, 2018.

5. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family;Dai;J Med Genet,2010

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