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Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre–Chotzen syndrome. TCF1...
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| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4231413/ https://ncbi.nlm.nih.gov/pubmed/24736737 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.57 |
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