HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

被引：20

作者：

Bernardini, L. ^{[1
,2
]}

Sinibaldi, L. ^{[1
,2
,3
]}

Capalbo, A. ^{[1
,2
]}

Bottillo, I. ^{[1
,2
,3
]}

Mancuso, B. ^{[1
,2
,3
]}

Torres, B. ^{[1
,2
,3
]}

Novelli, A. ^{[1
,2
]}

Digilio, M. C. ^{[4
]}

Dallapiccola, B. ^{[1
,2
,3
]}

机构：

[1] CSS Mendel Inst, I-00198 Rome, Italy

[2] IRCCS Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy

[3] Univ Roma La Sapienza, Dept Expt Med, Rome, Italy

[4] Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy

来源：

CLINICAL GENETICS | 2009年 / 76卷 / 01期

关键词：

DELETIONS; MUTATIONS; 22Q11.2; TBX1; PHENOTYPE; DIGEORGE; SPECTRUM; BINDING; EYE;

D O I：

10.1111/j.1399-0004.2009.01170.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

引用

页码：117 / 119

页数：3

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