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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...

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Detalles Bibliográficos
Autores principales:	Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Clinical Report
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

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