Condition: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1


rs121917817 in B4GALT7 gene and EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 PMID 10506123 1999 Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.