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名词信息
中 文 名:
2型家族性糖皮质激素缺陷症
英 文 名:
type 2 familial glucocorticoid deficiency, FGD type 2
中文又称:
中文曾称:
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所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
type 2 familial glucocorticoid deficiency, FGD type 2
相关文献:
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
PMID:
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT, Chan LF, Metherell LA, Clark AJ.
Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.
PMID:19558534
Familial glucocorticoid deficiency type 2: a case report.
Akın L, Kurtoğlu S, Kendirici M, Akın MA.
J Clin Res Pediatr Endocrinol. 2010;2(3):122-5. doi: 10.4274/jcrpe.v2i3.122. Epub 2010 Aug 6.
PMID:21274326
[Familial glucocorticoid deficiency].
Mazur A, Ostański M, Kalina M.
Pediatr Endocrinol Diabetes Metab. 2007;13(2):91-4.
PMID:17880814
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL.
Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828.
PMID:18493136
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA.
Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
PMID:23279877
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I, Haris B, Hussain K.
J Endocr Soc. 2022 Apr 8;6(6):bvac058. doi: 10.1210/jendso/bvac058. eCollection 2022 Jun 1.
PMID:35506146
Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report.
Alghamdi AH.
Children (Basel). 2023 Feb 3;10(2):301. doi: 10.3390/children10020301.
PMID:36832430
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.
Génin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Bégeot M, Naville D.
Hum Genet. 2002 Oct;111(4-5):428-34. doi: 10.1007/s00439-002-0806-3. Epub 2002 Aug 24.
PMID:12384787
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF, Clark AJ, Metherell LA.
Horm Res. 2008;69(2):75-82. doi: 10.1159/000111810. Epub 2007 Dec 5.
PMID:18059087
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJ, Metherell LA.
J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.
PMID:20427498
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