Article
High specificity of head circumference to recognize N540K mutation in hypochondroplasia.
Annals of human biology - 1 Jan 2000
Fano Virginia, Gravina Luis Pablo, Pino Mariana Del, Chertkoff Lilien, Barreiro Cristina, Lejarraga Horacio
Abstract excerpt
Hypochondroplasia (HCH) is a skeletal dysplasia characterized by short stature with disproportionately short arms and legs. Anthopometrics and skeletal features are very similar to achondroplasia but milder. Seventy per cent of affected individuals are heterozygous for a mutation of the FGFR3 gene. Differences in some anthropometric measurements in affected patients with and without N540K mutation were analysed....
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