• A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome
• A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation
• A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
• 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
• Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
• Dental Anomalies in Ciliopathies: Lessons from Patients with <em>BBS2</em>, <em>BBS7,</em> and <em>EVC2</em> Mutations
• Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
• Elevated WNT signaling and compromised Hedgehog signaling due to <em>Evc2</em> loss of function contribute to the abnormal molar patterning
• Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications
• Ellis-van Creveld Syndrome
• Ellis-van Creveld syndrome in a neonate: a case report
• Ellis-van Creveld syndrome: a case report
• Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence
• EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO
• 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
• Identification of Compound Heterozygous <em>EVC2</em> Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
• Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
• Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details
• Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion
• Non-syndromic generalised hypotaurodontism in a case of Stage III Grade C periodontitis
• Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review
• Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report
• Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome
• Pulmonary Alveolar Microlithiasis in a Patient with Ellis-van Creveld Syndrome
• Recruitment of transcription factor ETS1 to activated accessible regions promotes the transcriptional program of cilia genes
• Surgical Outcome of Complex Knee Deformity Correction in a Girl With Ellis-van Creveld Syndrome: A Report of a Rare Case
• Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
• Weyers Acrofacial Dysostosis: A Case Report