Septo-optic dysplasia.
This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management of these phenotypically variable patients.
Webb
Emma A
EA
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.
Dattani
Mehul T
MT
D006801:Humans; D025962:Septo-Optic Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy