rs1557043622 in
SLC35A2 gene and
Blue sclera
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
rs1553630457 in
TGFBR2 gene and
Blue sclera
PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.