Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
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DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.
Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords
A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1886
Abstract: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. read more here.
Keywords: mutation dvl1; robinow syndrome; novel frameshift; dvl1 induced ... See more keywords