A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand bot...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2005
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