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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.在不平衡易位t(7;12)(q21.13;q23.1)内的隐匿性微缺失del(12)(p11.21p11.23)暗示了智力障碍和卡尔曼综合征的新候选基因座。
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A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.一个伴有隐匿性不平衡易位t(7;12)(q21.13;q23.1)的微缺失del(12)(p11.21p11.23)暗示了智力障碍和卡尔曼综合征的新候选基因座。
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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.重新分析外显子组测序数据揭示了两名先前未确诊的神经发育障碍兄弟姐妹的可治疗神经代谢起源。
Neurol Sci. 2023 Jul;44(7):2527-2540. doi: 10.1007/s10072-023-06699-8. Epub 2023 Feb 28.
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A rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.对1p13.3进行的严格基因组检测揭示了综合征性神经发育障碍中的16个常染色体显性候选基因。
Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022.

作者更正:大规模靶向测序确定神经发育障碍的风险基因。

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

作者信息

Wang Tianyun, Hoekzema Kendra, Vecchio Davide, Wu Huidan, Sulovari Arvis, Coe Bradley P, Gillentine Madelyn A, Wilfert Amy B, Perez-Jurado Luis A, Kvarnung Malin, Sleyp Yoeri, Earl Rachel K, Rosenfeld Jill A, Geisheker Madeleine R, Han Lin, Du Bing, Barnett Chris, Thompson Elizabeth, Shaw Marie, Carroll Renee, Friend Kathryn, Catford Rachael, Palmer Elizabeth E, Zou Xiaobing, Ou Jianjun, Li Honghui, Guo Hui, Gerdts Jennifer, Avola Emanuela, Calabrese Giuseppe, Elia Maurizio, Greco Donatella, Lindstrand Anna, Nordgren Ann, Anderlid Britt-Marie, Vandeweyer Geert, Van Dijck Anke, Van der Aa Nathalie, McKenna Brooke, Hancarova Miroslava, Bendova Sarka, Havlovicova Marketa, Malerba Giovanni, Bernardina Bernardo Dalla, Muglia Pierandrea, van Haeringen Arie, Hoffer Mariette J V, Franke Barbara, Cappuccio Gerarda, Delatycki Martin, Lockhart Paul J, Manning Melanie A, Liu Pengfei, Scheffer Ingrid E, Brunetti-Pierri Nicola, Rommelse Nanda, Amaral David G, Santen Gijs W E, Trabetti Elisabetta, Sedláček Zdeněk, Michaelson Jacob J, Pierce Karen, Courchesne Eric, Kooy R Frank, Nordenskjöld Magnus, Romano Corrado, Peeters Hilde, Bernier Raphael A, Gecz Jozef, Xia Kun, Eichler Evan E

机构信息

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.

出版信息

Nat Commun. 2020 Oct 21;11(1):5398. doi: 10.1038/s41467-020-19289-5.

DOI:10.1038/s41467-020-19289-5
PMID:33087701
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7578800/
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

摘要

本文的一个修订版本已发表,可通过本文顶部的链接获取。