Genetic Conditions > septo-optic dysplasia >

References

These sources were used to develop the Genetics Home Reference condition summary on septo-optic dysplasia.

Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Mårtensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998 Jun;19(2):125-33. PubMed citation
Dattani MT, Robinson IC. HESX1 and Septo-Optic Dysplasia. Rev Endocr Metab Disord. 2002 Dec;3(4):289-300. Review. PubMed citation
Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary. 2007;10(4):393-407. Review. PubMed citation
Kelberman D, Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. Horm Res. 2008;69(5):257-65. doi: 10.1159/000114856. Epub 2008 Feb 6. Review. PubMed citation
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007 Feb;92(2):691-7. Epub 2006 Dec 5. PubMed citation
Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. PubMed citation
Patel L, McNally RJ, Harrison E, Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006 Jan;148(1):85-8. PubMed citation
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab. 2003 Jan;88(1):45-50. PubMed citation
Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1;10(1):39-45. PubMed citation
Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. Epub 2009 Jul 22. Review. PubMed citation


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