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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… Click to show full 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.
Keywords:
mutation dvl1;
robinow syndrome;
novel frameshift;
dvl1 induced;
induced robinow;
frameshift mutation
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!