Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was us...

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Main Authors: Glaser, Rivka L., Jiang, Wen, Boyadjiev, Simeon A., Tran, Alissa K., Zachary, Andrea A., Van Maldergem, Lionel, Johnson, David, Walsh, Sinead, Oldridge, Michael, Wall, Steven A., Wilkie, Andrew O. M., Jabs, Ethylin Wang
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2000
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288162/
https://ncbi.nlm.nih.gov/pubmed/10712195
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