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
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
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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