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Unravelling short stature in pediatrics: the crucial role of genetic perspective.

作者信息

Martinez-Monseny Antonio F

机构信息

Department of Genetic and Molecular Medicine/IPER, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.

出版信息

Transl Pediatr. 2024 May 31;13(5):864-868. doi: 10.21037/tp-24-46. Epub 2024 May 20.

DOI:10.21037/tp-24-46
PMID:38840673
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11148743/
Abstract
摘要

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本文引用的文献

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Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.利用下一代测序技术对身材矮小儿童进行基因评估：单中心三级医疗机构的经验
Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):38-45. doi: 10.6065/apem.2346036.018. Epub 2024 Feb 29.
2
Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience".关于“使用下一代测序技术对身材矮小儿童进行基因评估：单一三级中心的经验”的评论
Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):1-2. doi: 10.6065/apem.2423018edi01. Epub 2024 Feb 29.
3
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.临床遗传学评估三角（CGAT）：一种用于识别遗传疾病患者的简单工具。
Eur J Med Genet. 2023 Nov;66(11):104858. doi: 10.1016/j.ejmg.2023.104858. Epub 2023 Sep 26.
4
The Role of Genetic Testing for Short Stature Now and in the Future.基因检测在当前及未来对身材矮小的作用。
JAMA Pediatr. 2023 Nov 1;177(11):1127-1128. doi: 10.1001/jamapediatrics.2023.3575.
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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.外显子测序和染色体微阵列在矮小症中的分子诊断收益：系统评价和荟萃分析。
JAMA Pediatr. 2023 Nov 1;177(11):1149-1157. doi: 10.1001/jamapediatrics.2023.3566.
6
Clinical and genetic evaluation of children with short stature of unknown origin.不明原因身材矮小儿童的临床和遗传学评估。
BMC Med Genomics. 2023 Aug 21;16(1):194. doi: 10.1186/s12920-023-01626-4.
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Addressing Short Stature is Still a Tall Order.解决身材矮小问题仍然是一项艰巨的任务。
J Pediatr. 2023 Nov;262:113659. doi: 10.1016/j.jpeds.2023.113659. Epub 2023 Aug 3.
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Approach to the Patient With Short Stature: Genetic Testing.矮小患者的处理方法：基因检测。
J Clin Endocrinol Metab. 2023 Mar 10;108(4):1007-1017. doi: 10.1210/clinem/dgac637.
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J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3121-e3133. doi: 10.1210/clinem/dgac319.
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