Author:
Lajeunie Elisabeth,Heuertz Solange,El Ghouzzi Vincent,Martinovic Jelena,Renier Dominique,Le Merrer Martine,Bonaventure Jacky
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference46 articles.
1. Hall CM : International nosology and classification of Constitutional disorders of bone, 2005, 7th International Skeletal Dysplasia Meeting Martigny, Switzerland.
2. Cohen Jr MM : Pfeiffer syndrome update, clinical subtype and guidelines for differential diagnosis. Am J Med Genet 1993; 45: 300–307.
3. Reardon W, Winter RM, Rutland P et al: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8: 98–102.
4. Jabs EW, Li X, Scott AF et al: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994; 8: 275–279.
5. Lajeunie E, Ma HW, Bonaventure J et al: FGFR2 mutations in Pfeiffer syndrome. Nat Genet 1995; 9: 108.
Cited by
105 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献