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ODP104 Isolated familial hypoparathyroidism with Tbx1 mutation in Korea

BACKGROUND: Non-surgical hypoparathyroidism due to lack of PTH secretion or action is uncommon disorder characterized by hypocalcemia and hyperphosphatemia. Familial hypoparathyroidism is classified into syndromic hypoparathyroidism, including DiGeorge syndrome and isolated familial hypoparathyroidi...

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Detalles Bibliográficos
Autores principales: Lee, Seunghyun, Hong, Namki, Shin, Sungjae, Rhee, Yumie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625000/
http://dx.doi.org/10.1210/jendso/bvac150.347