Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome

BACKGROUND: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. OBJECTIVES: The aim of this study was to investigate the genetic cause of a ARRS fetus and to evaluate the reliability of whole‐exome sequenc...

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Detalhes bibliográficos
Publicado no:J Clin Lab Anal
Main Authors: Yang, Kai, Zhu, Jianjiang, Tan, Ya, Sun, Xiaofei, Zhao, Huawei, Tang, Guodong, Zhang, Dongliang, Qi, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7031599/
https://ncbi.nlm.nih.gov/pubmed/31617258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23074
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