Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.

Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint (TMJ) development and homeostasis in response to jaw loading.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect.

Anesthetic management challenges in a pediatric patient with Ellis Van Creveld syndrome and complex cardiac anomalies: A case report.

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches.

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.

A Case of Ellis-van Creveld Syndrome.

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

High-tech care in the Amish: Chronic respiratory failure in Ellis-van Creveld syndrome.

Human Genetics of Tricuspid Atresia and Univentricular Heart.

Human Genetics of Ventricular Septal Defect.

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Ellis-van Creveld syndrome: a case report.

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.

A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications.

Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes.

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.

Non-syndromic generalised hypotaurodontism in a case of Stage III Grade C periodontitis.

Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.

Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report.

Ellis-van Creveld syndrome in a neonate: a case report.

Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions.

Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence.

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.

Pulmonary Alveolar Microlithiasis in a Patient with Ellis-van Creveld Syndrome.

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Exotropia in a case of Ellis Van Creveld syndrome: A rare case report.

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.

Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review.

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.

Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis.

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome.

Surgical treatment of a 36-year-old patient with asphyxiating thoracic dysplasia.

THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION.

Hypoplastic nails and brachydactyly in a girl with moderate acne and hirsutism.

Role of Primary Cilia in Bone and Cartilage.

Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia.

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.

Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey.

Late survival in Ellis-van Creveld syndrome with common single atrium.

Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.

Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome - A Rare Case Report.

Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome.

First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report.

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.

Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Oral rehabilitation in a patient with Jeune syndrome presenting with multiple teeth agenesis.

Disorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice.

Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution.

Prenatal Diagnosis of Jeune Syndrome by Whole-Exome Sequencing in a Case With Mild Skeletal Changes.

Ellis-van Creveld syndrome: Report of a case and recurrent variant.

Skeletal ciliopathies: a pattern recognition approach.

RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION.

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Polydactyly a review and update of a common congenital hand difference.

Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review.

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

[Bilateral papilledema in a thirteen-year-old girl with Jeune syndrome].

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Ellis-van Creveld syndrome in a patient from Tanzania.

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Oral manifestations of ellis-van creveld syndrome. A rare case report.

Usher syndrome in a patient with Ellis-van Creveld syndrome.

CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.

Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.

A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia.

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Chondroectodermal Syndrome.

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.

Anesthetic management of an infant with Jeune syndrome and severe pulmonary hypertension for tracheostomy.

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Marked Hypoplasia of the Distal Phalanges in Ellis-Van Creveld Syndrome.

Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.

Extracorporeal membrane oxygenation support in individuals with thoracic insufficiency.

Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach.

Anaesthetic challenges of Ellis-van Creveld syndrome.

Ellis-Van Creveld Syndrome in a Neonate.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.

Successful Two-step Correction for Severe Genu Valgum in Ellis-van Creveld Syndrome: A Case Report.

Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report.

The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.

Role of Primary Cilia in Odontogenesis.

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

[Clinical analysis of 21 cases with short fetal femur in the third trimester].

Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.

Anesthetic Management of a Child With Jeune Syndrome for Tracheotomy: A Case Report.

[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia].

Use of a magnetic bone nail for lengthening of the femur and tibia.

Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

[Infant respiratory distress revealing Jeune syndrome].

Ellis-Van Creveld syndrome in siblings: A rare case report.

Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.

Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement.

Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing.

Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series.

Syndromes with supernumerary teeth.

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.

Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.

Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report.

Distraction osteogenesis of the sternum for thoracic expansion in a severe case of jeune syndrome: a preliminary report.

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Thoracic Insufficiency Syndrome.

Respiratory sleep disorders in Jeune syndrome: a case description.

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME.

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Ellis-van Creveld syndrome presenting in the second decade.

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.

A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review.

EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Ellis-van Creveld Syndrome with Sagittal Craniosynostosis.

Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

[Clinical case of Jeune syndrome].

Genetic background of supernumerary teeth.

[Ellis van Creveld. Case report].

Chondroectodermal dysplasia: a rare syndrome.

Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib.