Associated Papers
Identification of a Novel EVC2 Variant in a Family with Non-Syndromic Tooth Agenesis and Its Potential Functional Implications.
Yan C et al.
Genes, 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS3.xlsx › Sheet1
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B et al.
Molecular Syndromology, 2017
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.
Iwakura H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
Valencia M et al.
Case Reports in Genetics, 2015
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
Shen W et al.
American Journal of Medical Genetics. Part A, 2011
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