Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
Uludağ Alkaya D et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT et al.
Hgg Advances, 2021
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S et al.
American Journal of Human Genetics, 2019
Select a paper to view details