Condition: Blue sclera


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.