• <em>ATP6V0A2</em>-Related Cutis Laxa
• A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
• Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms?
• Autosomal recessive cutis laxa syndrome revisited
• Cellular physiology of the renal H+ATPase
• Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome
• Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
• Cutis laxa autosomal recessive type II or wrinkly skin syndrome?
• Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes
• Del(2q)--cause of the wrinkly skin syndrome?
• Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
• Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)
• Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
• Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
• Geroderma osteodysplastica. Report of a new family
• Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
• Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
• Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
• Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?
• Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations
• Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
• Neurological involvement in a child with the wrinkly skin syndrome
• Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
• Oral Intake of Hydrangea serrata (Thunb.) Ser. Leaves Extract Improves Wrinkles, Hydration, Elasticity, Texture, and Roughness in Human Skin: A Randomized, Double-Blind, Placebo-Controlled Study
• Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
• The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
• The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity
• The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family
• The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue
• The wrinkly skin syndrome: a report of a case and review of the literature
• The wrinkly skin syndrome: a report of two siblings from Saudi Arabia
• Wrinkly skin syndrome
• Wrinkly skin syndrome
• Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder
• Wrinkly skin syndrome: phenotype and additional manifestations
• Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers