因DHX30基因突变导致的伴有严重运动障碍和语言缺失的神经发育障碍（NEDMIAL）：印度首例两例报告 - Suppr

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Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases.

作者信息

Gunasekaran Pradeep Kumar, Sharma Yashu, Bhatia Vikas, Saini Arushi Gahlot

机构信息

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Ann Indian Acad Neurol. 2024 Jul 1;27(4):465-466. doi: 10.4103/aian.aian_253_24. Epub 2024 Aug 16.

DOI:10.4103/aian.aian_253_24

PMID:39150459

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11418768/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81e8/11418768/c5958b228bdd/AIAN-27-465-g001.jpg

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本文引用的文献

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Clin Genet. 2021 Sep;100(3):350-351. doi: 10.1111/cge.14013. Epub 2021 Jun 28.

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.一名日本成年人和两名女孩因DHX30基因的新生错义变异导致NEDMIAL。

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Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3.

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.一篇关于DHX30相关神经发育障碍中生殖腺嵌合体的报告。

Clin Dysmorphol. 2020 Jul;29(3):161-164. doi: 10.1097/MCD.0000000000000316.

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Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014.

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