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Items: 3

1.

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Desmaison A, Vigouroux A, Rieubland C, Peres C, Calvas P, Chassaing N.

Mol Vis. 2010 Dec 18;16:2847-9.

2.

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.

J Clin Endocrinol Metab. 2009 Jan;94(1):314-9. doi: 10.1210/jc.2008-1219. Epub 2008 Oct 14.

PMID:
18854396
3.

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334.

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