septo-optic dysplasia
Etiology
heterozygous HESX1 mutations (#11136712#)
18q deletion/3p trisomy (#14986931#)
mitochondrial cytochrome b mutation (#11891837#)
maternal multidrug abuse during pregnancy (#12453085#)
Associations
congenital hepatic fibrosis (#14580661#)
References
Dattani ML, Martinez-Barbera J, Thomas PQ, Brickman JM, Gupta R, Wales JK, Hindmarsh PC, Beddington RS, Robinson IC. Molecular genetics of septo-optic dysplasia. Horm Res. 2000;53 Suppl 1:26-33. PMID: #10895039#
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