Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features

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dc.contributor.authorAwwad, Johnny T.
dc.contributor.authorYammine, Tony
dc.contributor.authorHamdar, Layal H.
dc.contributor.authorSouaid, Mirna
dc.contributor.authorFarra, Chantal G.
dc.contributor.departmentObstetrics and Gynecology
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T12:08:14Z
dc.date.available2025-01-24T12:08:14Z
dc.date.issued2023
dc.identifier.doihttps://doi.org/10.1097/MCD.0000000000000447
dc.identifier.eid2-s2.0-85149957153
dc.identifier.pmid36779797
dc.identifier.urihttp://hdl.handle.net/10938/31764
dc.language.isoen
dc.publisherLippincott Williams and Wilkins
dc.relation.ispartofClinical Dysmorphology
dc.sourceScopus
dc.subjectAlagille syndrome
dc.subjectHumans
dc.subjectJagged-1 protein
dc.subjectMembrane proteins
dc.subjectMutation
dc.subjectComplementary dna
dc.subjectGamma glutamyltransferase
dc.subjectProtein jagged 1
dc.subjectJag1 protein, human
dc.subjectMembrane protein
dc.subjectAdult
dc.subjectAlternative rna splicing
dc.subjectAortic coarctation
dc.subjectArticle
dc.subjectBioinformatics
dc.subjectCase report
dc.subjectCholestasis
dc.subjectClinical article
dc.subjectEye examination
dc.subjectFallot tetralogy
dc.subjectFemale
dc.subjectFrameshift mutation
dc.subjectGene deletion
dc.subjectGene frequency
dc.subjectGene mutation
dc.subjectGenetic variability
dc.subjectGenome analysis
dc.subjectHuman
dc.subjectHypertension
dc.subjectIllumina sequencing
dc.subjectIntracytoplasmic sperm injection
dc.subjectIntrauterine growth retardation
dc.subjectKidney graft
dc.subjectLebanese
dc.subjectLiver disease
dc.subjectMale
dc.subjectMolecular genetics
dc.subjectOvary function
dc.subjectPedigree analysis
dc.subjectProtein expression
dc.subjectPulmonary valve stenosis
dc.subjectRenal artery stenosis
dc.subjectReverse transcription polymerase chain reaction
dc.subjectRna extraction
dc.subjectSanger sequencing
dc.subjectSequence alignment
dc.subjectSingle nucleotide polymorphism
dc.subjectSplenectomy
dc.subjectStop codon
dc.subjectWhole exome sequencing
dc.subjectGenetics
dc.subjectMetabolism
dc.titleNovel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
dc.typeArticle

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