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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Detalhes bibliográficos
Main Authors: Jay, Sally, Wiberg, Akira, Swan, Marc, Lester, Tracy, Williams, Louise J, Taylor, Indira B, Johnson, David, Wilkie, Andrew OM
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3652025/
https://ncbi.nlm.nih.gov/pubmed/23532954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35842
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