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Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation
Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8515315/ https://www.ncbi.nlm.nih.gov/pubmed/34667527 http://dx.doi.org/10.1055/s-0041-1733808 |