• A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure
• A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
• A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features
• A new case of neonatal progeroid syndrome with agenesis of corpus callosum
• A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome
• A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea
• A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
• A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature
• A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing
• A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2
• A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
• A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
• A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects
• Aicardi-Goutières syndrome with <em>SAMHD1</em> deficiency can be diagnosed by unscheduled DNA synthesis test
• An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair
• Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
• Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome
• Anesthesia in an Aging Infant: Neonatal Progeroid Syndrome
• Another case of neonatal progeroid syndrome and bilateral congenital upper eyelid entropion
• Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <em>FBN1</em> Gene, in Health and Disease
• Asprosin, a Fasting-Induced Glucogenic Protein Hormone
• Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
• Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia
• Blepharokeratoconjunctivitis in Cockayne syndrome
• Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome
• Case report: Rare among ultrarare-Clinical odyssey of a new patient with Ogden syndrome
• Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
• Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
• Clinical manifestation of a severe neonatal progeroid syndrome
• Clinical variability in neonatal progeroid syndrome
• Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
• COFS type 3 in an Indian family with antenatally detected arthrogryposis
• Conceptual developments in the causes of Cockayne syndrome
• De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
• De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
• Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome
• DNA replication timing alterations identify common markers between distinct progeroid diseases
• Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling
• EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
• Energy Regulation Mechanism and Therapeutic Potential of Asprosin
• Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders
• Further defining the phenotypic spectrum of B4GALT7 mutations
• Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A
• Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene
• Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)
• In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS)
• Intracranial calcifications in childhood: Part 2
• Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)
• Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene
• MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
• Natural course of neonatal progeroid syndrome
• Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A
• Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review
• Neonatal progeroid syndrome
• Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature
• Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs
• Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
• Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by <em>POLR3A</em> mutations
• New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
• Novel <em>LMNA</em> mutations cause an aggressive atypical neonatal progeria without progerin accumulation
• Novel Compound Heterozygous Variants in the <em>CDC6</em> Gene in a Russian Patient with Meier-Gorlin Syndrome
• Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts
• Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome
• Perturbation of wild-type lamin A metabolism results in a progeroid phenotype
• Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging
• POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS
• Premature aging syndromes : From phenotype to gene
• Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
• Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
• Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation
• Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome
• Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome
• RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
• Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics
• Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic
• Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
• Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
• Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)
• Specific combinations of biallelic <em>POLR3A</em> variants cause Wiedemann-Rautenstrauch syndrome
• Spectrum of Pediatric to Early Adulthood <em>POLR3A</em>-Associated Movement Disorders
• The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation
• The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?
• The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings
• The posttranslational processing of prelamin A and disease
• The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias
• Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation
• Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome
• Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient
• Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome
• Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome
• Wiedemann-Rautenstauch syndrome
• Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts
• Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients
• Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A
• Wiedemann-Rautenstrauch syndrome prenatal diagnosis
• Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction
• Wiedemann-Rautenstrauch syndrome: A phenotype analysis
• Wiedemann-Rautenstrauch syndrome: first Indian case
• Wiedemann-Rautenstrauch syndrome: report of a variant case
• Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation