Literature DB >> 29776788

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

Rai-Hseng Hsu1, Wuh-Liang Hwu2, Ming Chen3, I-Fang Chung4, Steven Shinn-Forng Peng5, Chen-Yang Chen4, Wei-Chung Cheng6, Yin-Hsiu Chien2, Ni-Chung Lee7.   

Abstract

Entities:  

Year:  2018        PMID： 29776788     DOI： 10.1016/j.pedneo.2018.04.002

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN： 1875-9572            Impact factor:   2.083


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  2 in total

1.  Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.

Authors:  Ceren Yılmaz Uzman; Tufan Çankaya; Handan Güleryüz; Ayfer Ülgenalp; Özlem Giray Bozkaya
Journal:  Skeletal Radiol       Date:  2022-07-01       Impact factor: 2.199

2.  Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound.

Authors:  Ting-Yu Chang; I-Fang Chung; Wan-Ju Wu; Shun-Ping Chang; Wen-Hsiang Lin; Norman A Ginsberg; Gwo-Chin Ma; Ming Chen
Journal:  Diagnostics (Basel)       Date:  2020-05-07
  2 in total

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