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Obstetric Case Reports

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges

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Pages 628-630 | Published online: 11 Aug 2010

References

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  • Maroteaux P, Lamy M, Robert JM. 1967. Le nanisme thanathophore. [Thanatophoric dwarfism]. Presse Medicale 75:2519–2524.
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  • Rousseau F, El Ghouzzi V, Delezoide AL et al 1996. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Human Molecular Genetics 5:509–512.
  • Sawaia H, Komori S, Henmi T et al 1999. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenatal Diagnosis 19:21–24.
  • Seymour R, Jones A. 1994. Strawberry-shaped skull in fetal thanatophoric dysplasia. Ultrasound in Obstetrics and Gynecology 4:434–436.

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