Disease: Cutis laxa corneal clouding mental retardation
- A case of de Barsy syndrome with a severe eye phenotype
- A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report
- Anesthesia considerations for patients with de Barsy syndrome
- Clinical implications of de Barsy syndrome
- Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
- De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities
- De Barsy syndrome--an autosomal recessive, progeroid syndrome
- De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
- DeBarsy-Moens-Dierckx-syndrome (author's transl)
- Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?
- Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
- Molecular etiology of skin aging. How important is the genetic make-up?
- Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature
- Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
- The De Barsy syndrome