Hemifacial microsomia is linked to a rare homozygous variant V162I in FRK and validated in zebrafish.

Jianjun XiongXi WangChunxin FanJizhou YanJinwen ZhuTao Cai

Published in: Oral diseases (2022)

We identified a recessive variant in the FRK gene as a novel candidate gene for a patient with HFM and mandibular hypoplasia and revealed its effects on craniofacial and embryonic development in zebrafish.

Keyphrases

copy number
genome wide
genome wide identification
case report
single cell
dna methylation
genome wide analysis
autism spectrum disorder