Graves' disease in patients with 22q11.2 deletion
Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason M, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn D. Graves' disease in patients with 22q11.2 deletion. The Journal Of Pediatrics 2001, 139: 892-895. PMID: 11743521, DOI: 10.1067/mpd.2001.119448.Peer-Reviewed Original ResearchConceptsGraves' diseaseThyroid-stimulating hormone levelsSymptoms of hyperthyroidismMale patientsSerum levelsClinical presentationFemale patientsClinical spectrumFemale infantAge 27 monthsHormone levelsPatientsThyroid hormonesDiseaseDeletion syndromeHyperthyroidismSeizuresInfantsSyndromeSymptomsHormoneMonthsEndocrine aspects of the 22q11.2 deletion syndrome
Weinzimer S. Endocrine aspects of the 22q11.2 deletion syndrome. Genetics In Medicine 2001, 3: 19-22. PMID: 11339371, DOI: 10.1097/00125817-200101000-00005.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyEndocrine disturbancesEndocrine disordersHormonal disordersAppropriate screeningHormone deficiencyEndocrine aspectsEndocrinological manifestationsPatientsDiGeorge syndromeDeletion syndromeSyndromeDisordersCurrent understandingHypoparathyroidismHyperthyroidismHypothyroidismDeletion