Article
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Human molecular genetics - 1 Jan 1997
Oldridge M, Lunt P W, Zackai E H, McDonald-McGinn D M, Muenke M, Moloney D M, Twigg S R, Heath J K, Howard T D, Hoganson G, Gagnon D M, Jabs E W, Wilkie A O
Abstract excerpt
Dominantly acting, allelic mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been described in five craniosynostosis syndromes. In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more...
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