Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Naz Guleray LafcıCan KoşukcuSümeyra OğuzGizem Ürel DemirEkim Z TaşkıranPelin Özlem Şimşek KiperGülen Eda UtineYasemin AlanayKoray BoduroğluMehmet Alikaşifoğlu

Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2021)

Detailed clinical evaluation for any patient with OAVS is recommended due to a high rate of accompanying systemic findings. We further expand the existing genetic heterogeneity of OAVS by identifying several CNVs and a phenotypically overlapping disorder, MFDM.

Keyphrases

clinical evaluation
genome wide
copy number
case report
single cell
gene expression