Greig cephalopolysyndactyly syndrome
Definition:
References:
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[1]. E Elson, et al. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet. 2002 Nov;39(11):804-6. [Content Brief]
[2]. Jennifer J Johnston, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. [Content Brief]
[3]. Leslie G Biesecker, et al. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008 Apr 24;3:10. [Content Brief]