Associated Papers
Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.
Zhang Y et al.
Frontiers in Pediatrics, 2025
Molecular insights into human phosphatidylserine synthase 1 reveal its inhibition promotes LDL uptake.
Long T et al.
Cell, 2024
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J et al.
American Journal of Medical Genetics. Part A, 2018
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
Sohn M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.
Sohn M et al.
Journal of Rare Diseases Research & Treatment, 2016
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
Tamhankar PM et al.
European Journal of Medical Genetics, 2015
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB et al.
Nature Genetics, 2014
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