Article
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Clinical genetics - 1 Feb 2009
Almeida M R, Campos-Xavier A B, Medeira A, Cordeiro I, Sousa A B, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino J P, Correia A, Santos H G
Abstract excerpt
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).H...
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