Comparison of clinical-radiological and molecular findings in hypochondroplasia

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FG...

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Veröffentlicht in:	American journal of medical genetics 1998-01, Vol.75 (1), p.109-112
Hauptverfasser:	Prinster, Chiara, Carrera, Paola, Maschio, Maurizia Del, Weber, Giovanna, Maghnie, Mohamad, Vigone, Maria Cristina, Mora, Stefano, Tonini, Giorgio, Rigon, Franco, Beluffi, Giampiero, Severi, Francesca, Chiumello, Giuseppe, Ferrari, Maurizio
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Child Child, Preschool Cohort Studies Diseases of the osteoarticular system Female FGFR3 mutations Fibroblast Growth Factor 3 Fibroblast Growth Factors - genetics Gene Frequency genotype/phenotype Humans hypochondroplasia Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Point Mutation Polymerase Chain Reaction Proto-Oncogene Proteins - genetics Radiography
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