Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly

ConclusionAgnathia ‐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.

Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges Tags: CLINICAL REPORT Source Type: research