Papillary thyroid cancer in a patient with congenital goitrous hypothyroidism due to a novel deletion in NIS gene

被引：6

作者：

Agretti, Patrizia ^{[1
]}

Bagattini, Brunella ^{[1
]}

De Marco, Giuseppina ^{[1
]}

Di Cosmo, Caterina ^{[1
]}

Dionigi, Gianlorenzo ^{[2
]}

Vitti, Paolo ^{[1
]}

Tonacchera, Massimo ^{[1
]}

机构：

[1] Univ Pisana, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped,Univ Pisa, Via Paradisa 2, I-56124 Pisa, Italy

[2] Univ Insubria, Dipartimento Sci Chirurg & Morfol, Varese, Italy

来源：

ENDOCRINE | 2016年 / 54卷 / 01期

关键词：

IODIDE TRANSPORT; GOITER; MECHANISM;

D O I：

10.1007/s12020-015-0790-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：256 / 258

页数：3

共 39 条

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BMC MEDICAL GENETICS, 2018, 19
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (07) : E1100 - E1107
[36] Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia
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[37] Compound Heterozygosity for a Novel Hemizygous Missense Mutation and a Partial Deletion Affecting the Catalytic Core of the H2O2-generating Enzyme DUOX2 Associated with Transient Congenital Hypothyroidism
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[38] A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease
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FRONTIERS IN GENETICS, 2018, 9
[39] Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report
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