Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands, typically of the ring and little finger, with the thumb typically being spared. SYM1 is fr...

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Detalles Bibliográficos
Autores principales: Leonidou, Andreas, Irving, Melita, Holden, Simon, Katchburian, Marcos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155261/
https://www.ncbi.nlm.nih.gov/pubmed/28032038
http://dx.doi.org/10.5312/wjo.v7.i12.839

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155261/
https://www.ncbi.nlm.nih.gov/pubmed/28032038
http://dx.doi.org/10.5312/wjo.v7.i12.839

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