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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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| Udgivet i: | J Endocr Soc |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7208832/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1845 |
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