Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome
Open Access
- 1 September 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (3) , 711-716
- https://doi.org/10.1086/302000
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfectaAmerican Journal of Medical Genetics, 1995
- A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaNature Genetics, 1995
- Recent human germ-line mutation: inferences from patients with hemophilia BTrends in Genetics, 1995
- Perinatal lethal osteogenesis imperfecta.Journal of Medical Genetics, 1995
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3Nature Genetics, 1995
- Achondroplasia in sibs of normal parents.Journal of Medical Genetics, 1988
- Achondroplasia and Parental AgeNew England Journal of Medicine, 1986
- Achondroplasia: Unexpected familial recurrenceAmerican Journal of Medical Genetics, 1984
- A study of parental age effects on the occurrence of fresh mutations for the Apert syndromeAnnals of Human Genetics, 1974
- Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*Annals of Human Genetics, 1959