Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 18, Issue 4, Pages 393-397Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.125
Keywords
optic-nerve hypoplasia; pituitary; septum pellucidum
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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.
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