Author:
Toydemir Reha M,Bamshad Michael J
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference14 articles.
1. Freeman EA, Sheldon JH: Cranio-carpotarsal dystrophy: Undescribed congenital malformation. Archives of Disease in Childhood. 1938, 13: 277-283. 10.1136/adc.13.75.277.
2. Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M: A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. American Journal of Human Genetics. 1997, 60: 426-432.
3. Hall JG, Reed SD, Greene G: The distal arthrogryposes: delineation of new entities–review and nosologic discussion. American Journal of Medical Genetics. 1982, 11: 185-239. 10.1002/ajmg.1320110208.
4. Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M: Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). American Journal of Medical Genetics. 1998, 76: 93-98. 10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K.
5. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ: Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics. 2006, 38: 561-565. 10.1038/ng1775.
Cited by
45 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