Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2004
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