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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| _version_ | 1797095100923248640 |
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| author | de Ravel, T Taylor, I Van Oostveldt, A Fryns, J Wilkie, A |
| author_facet | de Ravel, T Taylor, I Van Oostveldt, A Fryns, J Wilkie, A |
| author_sort | de Ravel, T |
| collection | OXFORD |
| description | 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 both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations. |
| first_indexed | 2024-03-07T04:23:14Z |
| format | Journal article |
| id | oxford-uuid:cbbc86c2-8c26-42cc-a4bd-f0360ee3b837 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:23:14Z |
| publishDate | 2005 |
| record_format | dspace |
| spelling | oxford-uuid:cbbc86c2-8c26-42cc-a4bd-f0360ee3b8372022-03-27T07:16:56ZA further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:cbbc86c2-8c26-42cc-a4bd-f0360ee3b837EnglishSymplectic Elements at Oxford2005de Ravel, TTaylor, IVan Oostveldt, AFryns, JWilkie, AWe 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 both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations. |
| spellingShingle | de Ravel, T Taylor, I Van Oostveldt, A Fryns, J Wilkie, A A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title | A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title_full | A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title_fullStr | A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title_full_unstemmed | A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title_short | A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. |
| title_sort | further mutation of the fgfr2 tyrosine kinase domain in mild crouzon syndrome |
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