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Updated: Jul 4, 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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PTCHD1基因突变/删除:四个病例报告的认知行为表型

Federica Alice Maria Montanaro1, Alessandra Mandarino1, Viola Alesi2

  • 1Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Frontiers in psychiatry
|January 30, 2024
PubMed
概括

与X相关的PTCHD1基因的突变与神经发育障碍 (NDs) 有关. 这项研究详细介绍了患有PTCHD1缺失的个体的临床和神经心理学概况,突出了发育迟缓和不同程度的智力障碍的严重程度.

关键词:
在PTCHD1基因中.自闭症谱系障碍 自闭症谱系障碍认知行为现象型 认知行为现象型智力障碍 智力障碍是一种智力障碍.罕见遗传综合征是一种罕见的遗传综合征.

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