Hemifacial microsomia is linked a rare homozygous variant V162I in FRK and validated in zebrafish.
Sign Up to like & getrecommendations! Published in 2022 at "Oral diseases"
DOI: 10.1111/odi.14372
Abstract: OBJECTIVES Hemifacial microsomia (HFM) is a common birth defect involving the first and second branchial arch derivatives. Although several chromosomal abnormalities and causal gene variants have been identified, genetic etiologies in a majority of cases… read more here.
Keywords: hemifacial microsomia; cartilage; v162i frk; frk ... See more keywords