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Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome.

作者信息

Kim You-Min, Kim Jin-Kyung

机构信息

Department of Pediatrics, Daegu Catholic University Medical Center, Daegu, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2025 Apr;30(2):102-105. doi: 10.6065/apem.2448132.066. Epub 2025 Apr 30.

DOI:10.6065/apem.2448132.066
PMID:40335045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12061758/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d7d/12061758/b011a1b2da01/apem-2448132-066f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d7d/12061758/b011a1b2da01/apem-2448132-066f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d7d/12061758/b011a1b2da01/apem-2448132-066f1.jpg

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Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome.一名患有9p缺失综合征的婴儿的先天性高胰岛素血症性低血糖症。
Ann Pediatr Endocrinol Metab. 2025 Apr;30(2):102-105. doi: 10.6065/apem.2448132.066. Epub 2025 Apr 30.
2
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.9号染色体短臂缺失综合征先天性高胰岛素血症关键基因组区域的优化
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本文引用的文献

1
Syndromic forms of congenital hyperinsulinism.先天性高胰岛素血症的综合征形式。
Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023.
2
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.9p 缺失综合征心脏表型的研究进展：意大利多中心经验及文献复习。
Genes (Basel). 2023 Jan 5;14(1):146. doi: 10.3390/genes14010146.
3
A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.
14q32 端重复导致的发育迟缓伴智力残疾、生长迟缓、面型异常和脑梗死：一例韩国家系病例报告及文献复习
Genes (Basel). 2021 Sep 7;12(9):1388. doi: 10.3390/genes12091388.
4
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.先天性高胰岛素血症：分子机制、诊断和治疗的最新进展。
J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28.
5
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.9号染色体短臂缺失综合征先天性高胰岛素血症关键基因组区域的优化
Wellcome Open Res. 2020 Aug 4;4:149. doi: 10.12688/wellcomeopenres.15465.2. eCollection 2019.
6
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.一名患有9p缺失综合征的患者出现新生儿高胰岛素血症性低血糖症。
Eur J Med Genet. 2018 Aug;61(8):473-477. doi: 10.1016/j.ejmg.2018.03.009. Epub 2018 Mar 27.
7
14q32.3-qter trisomic segment: a case report and literature review.14号染色体长臂3区2带3亚带至末端三体片段：1例病例报告及文献复习
Mol Cytogenet. 2016 Aug 5;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016.
8
Clinical and neuroradiological features of the 9p deletion syndrome.9p缺失综合征的临床和神经放射学特征。
Childs Nerv Syst. 2016 Feb;32(2):327-35. doi: 10.1007/s00381-015-2957-2. Epub 2015 Nov 23.
9
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.14q32.2-qter区域7.6Mb的新发串联重复，与原发性身材矮小伴神经分泌性生长激素功能障碍、独特的面部异常及轻度发育迟缓相关。
Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20.
10
A mild phenotype associated with der(9)t(3;9) (p25;p23).与der(9)t(3;9)(p25;p23)相关的轻度表型。
J Med Genet. 1996 Jul;33(7):625-7. doi: 10.1136/jmg.33.7.625.