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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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Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective

Tingting Zhao1, Shengnan Wu2, Yiping Shen3

  • 1Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Orphanet Journal of Rare Diseases
|February 8, 2024
PubMed
Abstract

Keywords:
Developmental delayGenotypeIntellectual disabilityPhenotypePitt–Hopkins syndromeTCF4

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