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Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
Schindler, S (2002) Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. Journal of Medical Genetics 39 (10), pp. 764-766.Date of publication of this fulltext: 19 Dec 2024 15:37
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| Item type | Article | ||||
| Journal or Publication Title | Journal of Medical Genetics | ||||
| Publisher: | BRITISH MED JOURNAL PUBL GROUP | ||||
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| Place of Publication: | LONDON | ||||
| Volume: | 39 | ||||
| Number of Issue or Book Chapter: | 10 | ||||
| Page Range: | pp. 764-766 | ||||
| Date | 2002 | ||||
| Institutions | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik Medicine > Lehrstuhl für Neurochirurgie | ||||
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| Keywords | CROUZON-SYNDROME; PRO250ARG MUTATION; CORONAL CRANIOSYNOSTOSIS; IDENTICAL MUTATIONS; PFEIFFER-SYNDROME; GENE CAUSE; FGFR2; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 72727 |
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