CNP-related Short and Tall Stature: A Close-knit Family of Growth Disorders.
作者信息
Lui Julian C, Baron Jeffrey
机构信息
Section on Growth and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1103, USA.
出版信息
J Endocr Soc. 2022 Apr 16;6(6):bvac064. doi: 10.1210/jendso/bvac064. eCollection 2022 Jun 1.
Abstract
摘要
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本文引用的文献
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J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1.
2
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.每日一次，皮下注射 vosoritide 治疗软骨发育不全患儿：一项随机、双盲、3 期、安慰剂对照、多中心试验。
Lancet. 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5.
3
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.NPR-C 受体的双等位基因功能丧失突变导致生长增强和结缔组织异常。
Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19.
4
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).一名患有平衡染色体易位t(1;2)(q41;q37.1)的女孩因C型利钠肽过度表达导致的骨骼过度生长综合征
Am J Med Genet A. 2015 May;167A(5):1033-8. doi: 10.1002/ajmg.a.36884. Epub 2015 Feb 27.
5
Recent research on the growth plate: Recent insights into the regulation of the growth plate.近期关于生长板的研究：对生长板调节的最新见解。
J Mol Endocrinol. 2014 Aug;53(1):T1-9. doi: 10.1530/JME-14-0022. Epub 2014 Apr 16.
6
An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.在利钠肽受体-2的激酶同源结构域中存在一个激活突变，可导致身材极高而无骨骼畸形。
J Clin Endocrinol Metab. 2013 Dec;98(12):E1988-98. doi: 10.1210/jc.2013-2358. Epub 2013 Sep 20.
7
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.利钠肽受体-B（NPR2）基因突变导致最初被归类为特发性矮小症的患者身材矮小。
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8
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