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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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Detalles Bibliográficos
Autores principales:	Yang, Kai, Zhu, Jianjiang, Tan, Ya, Sun, Xiaofei, Zhao, Huawei, Tang, Guodong, Zhang, Dongliang, Qi, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031599/ https://www.ncbi.nlm.nih.gov/pubmed/31617258 http://dx.doi.org/10.1002/jcla.23074

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