Simpson-Golabi-Behmel syndrome
Definition:
References:
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[1]. Bartlomiej Budny, et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006 Sep;120(2):171-8. [Content Brief]
[2]. G Pilia, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet. 1996 Mar;12(3):241-7. [Content Brief]
[3]. M R DeBaun, et al. Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. Mol Genet Metab. 2001 Apr;72(4):279-86. [Content Brief]
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