• A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa
• Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
• Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab^Prx1 mice tibiae: A mouse model of premature aging
• Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
• 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 osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis
• Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
• GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting
• GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation
• Impaired proteoglycan glycosylation, elevated TGF-beta signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
• Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
• Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
• The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity
• The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2
• Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency