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Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience".

作者信息

Jin Hye Young

机构信息

Department of Pediatrics, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):1-2. doi: 10.6065/apem.2423018edi01. Epub 2024 Feb 29.

Abstract
摘要

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Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.
Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):38-45. doi: 10.6065/apem.2346036.018. Epub 2024 Feb 29.
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Ann Pediatr Endocrinol Metab. 2022 Dec;27(4):247-255. doi: 10.6065/apem.2244120.060. Epub 2022 Dec 31.
3
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.
Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S25-S28. doi: 10.6065/apem.2244052.026. Epub 2022 Jun 30.
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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
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Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.
Ann Pediatr Endocrinol Metab. 2021 Dec;26(4):218-226. doi: 10.6065/apem.2142208.104. Epub 2021 Dec 31.
7
Genetic evaluation in children with short stature.
Curr Opin Pediatr. 2021 Aug 1;33(4):458-463. doi: 10.1097/MOP.0000000000001033.
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Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Genet Med. 2021 May;23(5):813-815. doi: 10.1038/s41436-020-01046-0. Epub 2021 Jan 29.
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J Clin Endocrinol Metab. 2019 Jun 1;104(6):2023-2030. doi: 10.1210/jc.2018-01971.

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