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Updated: Jul 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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中国儿科遗传白质疾病中的基因型和表型异质性

Liling Dong1, Li Shang1, Caiyan Liu1

  • 1Neurology department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No. 1, Dongcheng district, Beijing, 100005, China.

Italian journal of pediatrics
|November 20, 2023
PubMed
概括

儿童遗传性白质疾病表现出各种症状. 这项研究确定了中国儿科患者的关键遗传变异,有助于准确诊断和了解这些罕见疾病.

关键词:
在ABCD1中,ABCD1是ABCD1.遗传频谱 遗传的频谱儿科遗传白质疾病 儿科遗传白质疾病

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