Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh M, Kaymakcalan H, Valilou S, Şahin Y. Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. American Journal Of Medical Genetics Part A 2023, 191: 1465-1469. PMID: 36757286, DOI: 10.1002/ajmg.a.63146.Peer-Reviewed Original ResearchConceptsExome sequencingPathogenic variantsCo-segregation studiesE3 ubiquitin protein ligaseUbiquitin-protein ligaseSplice site variantIn silico algorithmsBiallelic pathogenic variantsSite variantsUBR7Co-segregationSanger sequencingAutosomal recessive disorderBioinformatics prediction analysisDysmorphic featuresVariation c.Turkish familyHeterozygous statePathogenic effectsRecessive disorderCongenital heart defectsVariantsSequenceHeart defectsGenital anomalies