Condition: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1


rs104894854 in GPC3 gene and SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 PMID 10814714 2000 Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.