• A case of Costello with parathyroid adenoma and hyperprolactinemia
• A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa
• ALDH18A1-related cutis laxa syndrome with cyclic vomiting
• B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
• Cutis laxa
• Cutis laxa syndrome. Clinical, histologic and ultrastructural study of a new variant
• Decreased bone density and treatment in patients with autosomal recessive cutis laxa
• Geroderma osteodysplastica. Report of a new family
• Gerodermia Osteodysplastica
• Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity
• Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature
• Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family
• Loeys-Dietz Syndrome
• Marfan's syndrome--application of revised criteria and differential diagnosis in clinical practice
• Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica