A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
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Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeTranscription factors in parathyroid development: lessons from hypoparathyroid disorders.The Significance and Therapeutic Potential of GATA3 Expression and Mutation in Breast Cancer: A Systematic Review.GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.
P2860
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P2860
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
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2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@ast
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en-gb
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@nl
type
label
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@ast
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en-gb
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@nl
prefLabel
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@ast
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en-gb
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@nl
P2093
P356
P1476
A missense GATA3 mutation, Thr ...... , and renal dysplasia syndrome
@en
P2093
Irina V. Grigorieva
Katherine U. Gaynor
Ludwig Gortner
M. Andrew Nesbit
Rajesh V. Thakker
Thushari Gomes
Treena Cranston
P304
P356
10.1210/JC.2009-0717
P407
P577
2009-10-01T00:00:00Z