Author:
Webb Emma A,Dattani Mehul T
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference40 articles.
1. Patel L, McNally RJ, Harrison E et al: Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr 2006; 148: 85–88.
2. Lippe B, Kaplan SA, LaFranchi S : Septo-optic dysplasia and maternal age. Lancet 1979; 2: 92–93.
3. Dattani MT, Martinez-Barbera JP, Thomas PQ et al: Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998; 19: 125–133.
4. Kelberman D, Rizzoti K, Avilion A et al: Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 2006; 116: 2442–2455.
5. Kelberman D, de Castro SC, Huang S et al: SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab 2008; 93: 1865–1873.
Cited by
195 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