2020
SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome
Cruz-Aviles L, Bale A, Carpenter T. SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome. Journal Of The Endocrine Society 2020, 4: sat-065. PMCID: PMC7208832, DOI: 10.1210/jendso/bvaa046.1845.Peer-Reviewed Original ResearchBone density Z-scorePg/Abnormal calcium levelsLeft hip painSmall right kidneyVitamin D supplementationRemoval of hardwareSensorineural hearing lossBilateral hip dysplasiaPre-op evaluationCentral nervous systemCapital femoral epiphysisTotal hip replacementGATA3 gene mutationWhole-exome sequencingFamily membersD supplementationOral calciumYo maleGastroesophageal refluxHip painChvostek's signEndocrine evaluationRenal diseaseAvascular necrosis
2004
Multisystem study of 20 older adults with Williams syndrome
Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Multisystem study of 20 older adults with Williams syndrome. American Journal Of Medical Genetics Part A 2004, 131A: 255-264. PMID: 15534874, DOI: 10.1002/ajmg.a.30400.Peer-Reviewed Original ResearchConceptsStandard oral glucose tolerance testingOral glucose tolerance testingNatural historyLong-term natural historyHigh-frequency sensorineural hearing lossFrequency sensorineural hearing lossOlder adultsAbnormal body habitusWilliams syndromeAbnormal glucose toleranceGlucose tolerance testingBone mineral densitySensorineural hearing lossMultiple organ systemsBrain MRI scansYears of ageDiverticular diseaseGastrointestinal symptomsSubclinical hypothyroidismGlucose toleranceMultimodal therapyDEXA scanningBody habitusMineral densityCardiovascular disease