Article
Craniofacial phenotypes associated with Robinow syndrome.
American journal of medical genetics. Part A - 1 Dec 2021
Conlon Christopher J, Abu-Ghname Amjed, Raghuram Anjali C, Davis Matthew J, Guillen Diana E, Sutton V Reid, Carvalho Claudia M B, Maricevich Renata S
Abstract excerpt
Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. Due to low prevalence and considerable phenotypic variability, it has been challenging to definitively characterize features of Robinow syndrome. While craniofacial abnormalities associated with Robinow syndrome have been broadly described, there is a lack of detailed descriptions of genotype-specific phenotypic...
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