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更正：“先天性高胰岛素血症作为歌舞伎综合征的首发特征：10例受累个体的临床和分子特征”

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

作者信息

Yap Kai Lee, Johnson Amy E Knight, Fischer David, Kandikatla Priscilla, Deml Jacea, Nelakuditi Viswateja, Halbach Sara, Jeha George S, Burrage Lindsay C, Bodamer Olaf, Benavides Valeria C, Lewis Andrea M, Ellard Sian, Shah Pratik, Cody Declan, Diaz Alejandro, Devarajan Aishwarya, Truong Lisa, Greeley Siri Atma W, De Leon Diva D, Edmondson Andrew C, Das Soma, Thornton Paul, Waggoner Darrel, Del Gaudio Daniela

机构信息

Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois, USA.

Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

出版信息

Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1.

DOI:10.1038/s41436-018-0126-1
PMID:30097611
Abstract

The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leó-Critchlow in the original version of this paper.

摘要

本文原版本中作者迪瓦·D·德莱昂被错误地列为迪瓦·D·德莱奥 - 克里奇洛。

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Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".更正：“先天性高胰岛素血症作为歌舞伎综合征的首发特征：10例受累个体的临床和分子特征”
Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1.
2
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.先天性高胰岛素血症作为歌舞伎综合征的表现特征：9 名受影响个体的临床和分子特征。
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Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review.歌舞伎综合征2型中的持续性高胰岛素血症：病例报告与文献综述
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Genetic characteristics of patients with congenital hyperinsulinism.先天性高胰岛素血症患者的遗传特征。
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Case report: Kabuki syndrome and persistent hypoglycemia in neonates.病例报告：新生儿歌舞伎综合征与持续性低血糖症
J Family Med Prim Care. 2024 Dec;13(12):5900-5902. doi: 10.4103/jfmpc.jfmpc_674_24. Epub 2024 Dec 9.
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Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation.一例由KMT2D基因突变引起的新生儿歌舞伎综合征病例报告。
Front Pediatr. 2024 Nov 29;12:1455609. doi: 10.3389/fped.2024.1455609. eCollection 2024.
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Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.
29 周极早早产儿（胎龄）合并歌舞伎综合征 I 型：病例报告及文献复习。
Mol Genet Genomic Med. 2024 Oct;12(10):e70025. doi: 10.1002/mgg3.70025.
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Clinical and molecular characteristics of Korean patients with Kabuki syndrome.韩国卡布基综合征患者的临床和分子特征。
J Hum Genet. 2024 Sep;69(9):417-423. doi: 10.1038/s10038-024-01258-1. Epub 2024 Jun 1.
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Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and mutations.广西歌舞伎综合征患者的临床及分子分析与突变
Heliyon. 2023 Sep 24;9(10):e20223. doi: 10.1016/j.heliyon.2023.e20223. eCollection 2023 Oct.
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Near complete deletion of KMT2D in a college student.一名大学生中 KMT2D 的近乎完全缺失。
Am J Med Genet A. 2022 May;188(5):1550-1555. doi: 10.1002/ajmg.a.62652. Epub 2022 Jan 18.
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