Article
Auditory and vestibular phenotypes associated with GATA3 mutation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Apr 2014
Chien Wade Wei-De, Leiding Jennifer W, Hsu Amy P, Zalewski Christopher, King Kelly, Holland Steven M, Brewer Carmen
Abstract excerpt
OBJECTIVE: To report the auditory and vestibular phenotypes of patients with GATA3 mutation. STUDY DESIGN: Case series of 6 patients. SETTING: Tertiary referral center. PATIENTS: All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia. Patients (29-60 yr old; mean age, 42.5 yr; 3 male and 3 female subjects) were confirmed to have heterozygous mutations...
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