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Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196462/ https://www.ncbi.nlm.nih.gov/pubmed/32100971 http://dx.doi.org/10.1002/mgg3.1178 |