Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
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| Title: | Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. |
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| Authors: | Graul-Neumann LM; Ambulantes Gesundheitszentrum Humangenetik, Würzburg, Germany., Klopocki E; Institute of Human Genetics, University of Würzburg, Würzburg, Germany., Adolphs N; Department of Maxillo-Facial Surgery, Würzburg, Germany., Mensah MA; Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Würzburg, Germany., Kress W; Institute of Human Genetics, University of Würzburg, Würzburg, Germany. |
| Source: | Molecular syndromology [Mol Syndromol] 2017 Mar; Vol. 8 (2), pp. 93-97. Date of Electronic Publication: 2017 Jan 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1661-8769 |
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| DOI: | 10.1159/000455028 |
