Ptdss1 gene

Mutations in this gene are the cause of the hyperostotic dwarfism of Lenz-Majewski, a clinical picture associated with Cutis laxa. Two transcript variants were found for this gene, which encode different isoforms.

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2. Murtaza G et al (2018) Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. J Pak Med Assoc 68:793-796.
3. Robinow M et al (1977) The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. J Pediatr 91:417-421.
4. Tamhankar PM et al (2015) The DK. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. Eur J Med Genet 58:392-399.
5. Whyte MP et al (2015) Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1 J Bone Miner Res 30:606-614.