The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself

Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attribu...

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Detalles Bibliográficos
Autores principales: Jay, Sally, Wiberg, Akira, Swan, Marc, Lester, Tracy, Williams, Louise J, Taylor, Indira B, Johnson, David, Wilkie, Andrew OM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652025/
https://www.ncbi.nlm.nih.gov/pubmed/23532954
http://dx.doi.org/10.1002/ajmg.a.35842

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