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Updated: Jul 14, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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对PHARC综合征的遗传洞察:在ABHD12中发现了一种新型的框架转移突变

Ahmad Daneshi1, Masoud Garshasbi2, Mohammad Farhadi1

  • 1ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.

BMC medical genomics
|October 6, 2023
PubMed
概括

这项研究在患有PHARC综合征的兄弟姐妹中发现了一种新的ABHD12基因突变,这是一种罕见的神经退行性疾病. 这些发现强调了基因检测和合作对诊断这种疾病的重要性.

关键词:
在ABHD12中,ABHD12是指ABHD12的数字.过敏症 过敏症 过敏症 过敏症白内障是什么?白内障是什么?白内障是什么?这是一种内分泌大麻素 (endocannabinoid).听力损失 听力损失这是神经退行性疾病.在法尔克 (PHARC) 联盟中,多性神经病症 多性神经病症.视网膜炎的颜色素整体外基因组测序的测序

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