HomozygousN540Khypochondroplasia-First report: Radiological and clinical features
Author:
Affiliation:
1. Servicio de Genética Médica; Hospital J.P. Garrahan; Buenos Aires Argentina
2. Servicio de Crecimiento y Desarrollo; Hospital J.P. Garrahan; Buenos Aires Argentina
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36504/fullpdf
Reference25 articles.
1. Dominance and recessivity in medical genetics;Allison;Am J Med,1958
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nature Genet,1995
3. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia;Bonaventure;Acta Paediatr Suppl,1996
4. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations;Chitayat;Am J Med Genet,1999
5. Growth references for height, weight, and head circumference for Argentine children with achondroplasia;Del Pino;Eur J Pediatr,2011
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