Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Nicole MeierElisabeth BruderPeter MinySevgi TercanliIsabel Filges

Published in: Molecular genetics & genomic medicine (2020)

Agnathia-otocephaly with or without associated anomalies may represent the severe end of a phenotypic spectrum related to variants in genes in the interacting SMAD/TGFB/BMP/SHH/FGF developmental pathways.

Keyphrases

epithelial mesenchymal transition
transforming growth factor
mesenchymal stem cells
copy number
dna methylation
bone marrow