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