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SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome

Background: GATA3 encodes a transcription factor critical for embryonic development of the parathyroid glands, kidney, inner ear, thymus, and the central nervous system. Heterozygous loss-of-function mutations in GATA3 are associated with hypoparathyroidism, sensorineural deafness and renal disease...

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Detalles Bibliográficos
Autores principales: Cruz-Aviles, Lisa Michelle, Bale, Allen, Carpenter, Thomas O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208832/
http://dx.doi.org/10.1210/jendso/bvaa046.1845

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