Disease: Lenz Majewski hyperostotic dwarfism
- Bright ocular background with profound cutis laxa and large fontanelles
- Craniovertebral junction stenosis in Lenz-Majewski syndrome
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
- De novo loss-of-function variant in PTDSS1 is associated with developmental delay
- Disease-related PSS1 mutant impedes the formation and function of osteoclasts
- Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism
- Human Genetics of Sclerosing Bone Disorders
- Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features
- Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1
- Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient
- Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions
- Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
- Lenz-Majewski syndrome in a patient from Egypt
- Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene
- Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome
- The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis