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Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness

Background: Congenital hypoparathyroidism can be related to autosomal dominant mutations or deletions in GATA-binding protein 3 gene on chromosome 10(1,2). Affected patients present with a triad of hypoparathyroidism, renal dysplasia and neurosensorial deafness. We hereby present the case of a patie...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Dandurand, Karel, Ali, Dalal, Tran, Susan, Zhou, Tina, Khan, Aliya Aziz
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089565/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.383
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