Nature Genetics
10, 11 - 12 (1995)
doi:10.1038/ng0595-11
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1Francis Rousseau1, Pascale Saugier1, Martine Le Merrer1, Arnold Munnich1, Anne-Lise Delezoide1, Pierre Maroteaux1, Jacky Bonaventure1, Françoise Narcy2
& Marek Sanak3
1Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, CNRS ER-88, Hôpital des Enfants-Malades, 75743 Paris Cedex 15, France
2Service de Foetopathologie, Hôpital Cochin, 75014 Paris, France
3Medical Genetics Department of the Polish-American Children's Hospital, Krakow, Poland
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