2020
Genotype–Phenotype Correlations in Children with HHT
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME, . Genotype–Phenotype Correlations in Children with HHT. Journal Of Clinical Medicine 2020, 9: 2714. PMID: 32842615, PMCID: PMC7565052, DOI: 10.3390/jcm9092714.Peer-Reviewed Original ResearchBrain vascular malformationsHereditary hemorrhagic telangiectasiaPulmonary arteriovenous malformationsGenotype-phenotype correlationVascular malformationsArteriovenous malformationsHHT patientsCentral nervous systemRare autosomal dominant diseaseChi-square testAutosomal dominant diseaseGastrointestinal bleedingPediatric patientsMucocutaneous telangiectasiaHemorrhagic telangiectasiaGreater prevalenceNervous systemPatientsPhenotypic presentationDominant diseaseMalformationsAdultsChildrenTelangiectasiaMutations
2007
Septectomy and Septal Dermoplasty for the Treatment of Severe Transfusion-Dependent Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia and Septal Perforation
Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI. Septectomy and Septal Dermoplasty for the Treatment of Severe Transfusion-Dependent Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia and Septal Perforation. American Journal Of Rhinology And Allergy 2007, 21: 312-315. PMID: 17621815, DOI: 10.2500/ajr.2007.21.3017.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaSeptal dermoplastySeptal perforationQuality of lifeTransfusion requirementsHHT patientsHemorrhagic telangiectasiaMainstay of treatmentCentral nervous systemAutosomal dominant disorderMonopolar cauterizationGraft uptakeCommon manifestationMucocutaneous tissuesSubjective improvementEffective treatmentEpistaxisVisceral organsPatientsSeptectomyNervous systemAbnormal angiogenesisPatient resultsTelangiectasia formationCombined procedure