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Apert syndrome: A case report and review of the literature
Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently desc...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Kare Publishing
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206464/ https://www.ncbi.nlm.nih.gov/pubmed/28058401 http://dx.doi.org/10.14744/nci.2015.30602 |