Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
- 1 April 1997
- journal article
- Published by Elsevier in The Lancet
- Vol. 349 (9058) , 1059-1062
- https://doi.org/10.1016/s0140-6736(96)09082-4
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.Journal of Medical Genetics, 1997
- Exclusive paternal origin of new mutations in Apert syndromeNature Genetics, 1996
- Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricansNature Genetics, 1995
- Recent human germ-line mutation: inferences from patients with hemophilia BTrends in Genetics, 1995
- Localization of craniosynostosis Adelaide type to 4p16Human Molecular Genetics, 1995
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndromeNature Genetics, 1995
- The 1993–94 Généthon human genetic linkage mapNature Genetics, 1994
- A family study of craniosynostosis, with probable recognition of a distinct syndrome.Journal of Medical Genetics, 1982
- Craniosynostosis. II. Coronal synostosis: Its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactylyTeratology, 1977
- Craniosynostosis. I. Sagittal synostosis; Its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s)Teratology, 1976