A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
Үндсэн зохиолчид: | Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R |
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Формат: | Journal article |
Хэвлэсэн: |
2001
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
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Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
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Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
-н: Zahirieh, A, зэрэг
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A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
-н: Gaynor, K, зэрэг
Хэвлэсэн: (2009)