Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene
American journal of human genetics, Volume 85, Issue 1, 2009, Pages 53-63.
WOS SCOPUS EI
amino acid sequenceexonsmissense mutationsignal transduction
Fibroblast growth factors (FGFs) play diverse roles in several developmental processes. Mutations leading to deregulated FGF signaling can cause human skeletal dysplasias and cancer.(1,2) Here we report a missense mutation (Ser99Asp) in exon 2 of FGF9 in 12 patients with multiple synostoses syndrome (SYNS) in a large Chinese family. In vi...More
Full Text (Upload PDF)
PPT (Upload PPT)