Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Nicole MeierElisabeth BruderPeter MinySevgi TercanliIsabel FilgesPublished 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.