A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
Autors principals: | Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R |
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Format: | Journal article |
Publicat: |
2001
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A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
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