Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Meena BalasubramanianH LordS LevesqueH GuturuF ThuriotG SillonA M WengerD L SurekaT LesterD S JohnsonJ BowenA R CalhounD H Viskochilnull nullG BejeranoJ A BernsteinD Chitayat

Published in: Journal of medical genetics (2016)

We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF.

Keyphrases

transcription factor
case report
genome wide
copy number
gene expression
single molecule
human health
dna methylation