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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
 
J Med Genet. Nov 2002; 39(11): 804–806.
PMCID: PMC1735022
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
E Elson, R Perveen, D Donnai, S Wall, and G Black
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK.
Abstract
Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS. The finding is important for counselling families with suspected ACS.
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