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.