FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the fre...

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Detalles Bibliográficos
Autores principales: Xue, Yuan, Sun, Angela, Mekikian, P Betty, Martin, Jorge, Rimoin, David L, Lachman, Ralph S, Wilcox, William R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303219/
https://www.ncbi.nlm.nih.gov/pubmed/25614871
http://dx.doi.org/10.1002/mgg3.96

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