Associated Papers
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
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
Stürznickel J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
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