• <em>FBLN5</em>-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
• A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited
• A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa
• A Novel <em>ATP6V0A2</em> Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
• A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
• A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa
• A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
• A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report
• A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder
• Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene
• Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency
• ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
• ATP6V1A variants are associated with childhood epilepsy with favorable outcome
• ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
• Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFbeta Binding Protein-4
• Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4
• Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature
• Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement
• Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child
• Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature
• Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
• Autosomal recessive cutis laxa: New genes identified
• B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
• Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
• Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management
• Clinical and genetic analysis of a patient with cutis laxa
• Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing
• Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
• Clinical implications of de Barsy syndrome
• Clinical presentation of a patient with cutis laxa with systemic involvement: a case report
• Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia
• Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2
• Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
• Congenital cutis laxa: a case study
• Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)
• Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa
• Cutis Laxa
• Cutis Laxa
• Cutis laxa autosomal recessive type II or wrinkly skin syndrome?
• Cutis laxa presenting as recurrent ileus
• Cutis Laxa syndrome: a case report
• Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation
• De Barsy Syndrome: A Case Report of a Rare Genetic Disorder
• Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
• Effect of R119G Mutation on Human P5CR1 Dynamic Property and Enzymatic Activity
• EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
• Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
• Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
• Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings
• Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
• Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis
• FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems
• FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
• Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities
• Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries
• First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C
• Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice
• Genetic analysis of Pycr1 and Pycr2 in mice
• Giant aortic aneurysm due to fibulin- 4 deficiency: case series
• Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report
• Hemopericardium with cardiac tamponade as a rare presentation of a massive aortic aneurysm in a young child with autosomal recessive cutis laxa
• Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
• Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa
• Identification of a Novel 19-bp Deletion Mutation in <em>LTBP4</em> Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
• Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
• Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
• Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability
• Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum
• Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
• Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations
• Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
• LTBP4 in Health and Disease
• Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms
• Multiple bladder diverticula caused by occipital horn syndrome
• Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
• Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
• Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
• N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
• New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
• Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
• NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A
• Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC
• Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B
• Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
• 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
• Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
• RIN2 syndrome: Expanding the clinical phenotype
• Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
• Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <em>EFEMP2</em>
• Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2
• SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
• SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
• The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity
• The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease
• Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1
• Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis
• Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
• Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
• Δ¹ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder