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.

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Keywords:
amino acid sequenceexonsmissense mutationsignal transduction

Abstract:

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

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