Article
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Molecular genetics & genomic medicine - 1 Apr 2020
Meier Nicole, Bruder Elisabeth, Miny Peter, Tercanli Sevgi, Filges Isabel
Abstract excerpt
BACKGROUND: Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as...
Topics
- Craniofacial Abnormalities
- Fetus
- Genetic Testing
- Humans
- Loss of Function Mutation
- Phenotype
- Smad3 Protein
- Ultrasonography, Prenatal
- Exome Sequencing