OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.

Tristan CelseAngèle Tingaud-SequeiraKlaus DieterichGeraldine SiegfriedCédric LecaignecLaurence BouneauMadeleine FannemelGaelle SalaunFanny LaffargueGuillaume MartinezVéronique SatreGaelle VievilleMarie BidartCecilia Soussi ZanderAnn-Charlotte TuressonMiranda SplittDorothee ReboulJean ChiesaPhilippe Khau Van KienManon GodinNicolas GruchyHimanshu GoelElizabeth PalmerKalliope DemetriouCarolyn ShalhoubCaroline Rooryck Charles Coutton

Published in: Journal of medical genetics (2022)

genomic duplications are a recurrent cause of OAVS marked by auricular malformations of variable severity.

Keyphrases

bone mineral density
copy number
dna methylation
body composition
postmenopausal women