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...

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Detalles Bibliográficos
Autores principales: Singh, Chandra Bhan, Mishra, Biswajit, Patel, Rashmi, Kumar, Ashok, Ali, Akhtar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2021
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

Internet

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

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