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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
Publicado en:Mol Genet Genomic Med
Autores principales: Meier, Nicole, Bruder, Elisabeth, Miny, Peter, Tercanli, Sevgi, Filges, Isabel
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196462/
https://ncbi.nlm.nih.gov/pubmed/32100971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1178
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