Case Reports
doi: 10.1111/j.1399-0004.2010.01382.x.
Epub 2010 Mar 5.
Osteoglophonic dysplasia: A 'common' mutation in a rare disease
- PMID: 20236123
- PMCID: PMC4201914
- DOI: 10.1111/j.1399-0004.2010.01382.x
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Case Reports
Osteoglophonic dysplasia: A 'common' mutation in a rare disease
Clin Genet.
2010 Aug.
No abstract available
Figures
Facial features showing mandibular prognathism, midfacial hypoplasia and everted nose with a depressed nasal bridge
Heterozygous mutation c.1141C>T of FGFR1 in exon 10
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References
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- Farrow EG, Davis SI, Mooney SD, et al. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am J Medical Genet. 2006;140A:537–539. - PubMed
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- Beighton P, Cremin BJ, Kozlowski K. Osteoglophonic dwarfism. Pediatr Radiol. 1980;10:46–50. - PubMed
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- Roberts TS, Stephen L, Beighton P. Osteoglophonic dysplasia: dental and orthodontic implications. Orthod Craniofacial Res. 2006;9:153–156. - PubMed
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