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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | 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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