Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 636 publications
Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.
Journal: BMJ case reports
Published: October 10, 2025
Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint (TMJ) development and homeostasis in response to jaw loading.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: May 08, 2025
Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Journal: Turkish journal of ophthalmology
Published: January 30, 2025
Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.
Journal: Journal of family medicine and primary care
Published: January 28, 2025
Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.
Journal: Interdisciplinary cardiovascular and thoracic surgery
Published: January 11, 2025
A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.
Journal: Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
Published: January 01, 2025
Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches.
Journal: The Journal of craniofacial surgery
Published: December 26, 2024
A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Journal: Hereditas
Published: December 04, 2024
Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.
Journal: Journal of orthopaedic case reports
Published: October 18, 2024
Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: September 26, 2024
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.
Journal: Journal of medical genetics
Published: September 07, 2024
Correction of lower limb deformity in an adult patient with Ellis-van Creveld syndrome: a rare case report.
Journal: Journal of surgical case reports
Published: August 14, 2024
Last Updated: 10/31/2025