Author:
Ellaithi Mona,Gisselsson David,Nilsson Therese,Elagib Atif,Fadl-Elmula Imad,Abdelgadir Mashair
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference27 articles.
1. Brachmann W: Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung). Jarb Kinder Phys Erzie. 1916, 84: 225-235.
2. De Lange C: Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch Med Enfants. 1933, 36: 713-719.
3. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004, 36: 631-635. 10.1038/ng1364.
4. Ireland M, Burn J: Cornelia de Lange syndrome – photo essay. Clin Dysmorph. 1993, 2: 151-160.
5. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JF: Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet. 1993, 47: 947-958. 10.1002/ajmg.1320470704.
Cited by
4 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