Related Experiment Video

Updated: Jan 11, 2026

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

9.0K

Novel PIK3CG compound heterozygous variants cause inactivated PI3Kγ syndrome presenting as necrotizing enterocolitis

Wenting Zhang1,2, Xiaoying Zhou1,3, Bixia Zheng4

  • 1Central Laboratory of Pediatrics, Affiliated Changzhou Children's Hospital of Nantong University, Changzhou, Jiangsu 213003, China.

Genes & Diseases
|November 11, 2025
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Neonatal BALB/c Mouse Model of Necrotizing Enterocolitis05:39

A Neonatal BALB/c Mouse Model of Necrotizing Enterocolitis

Published on: November 30, 2021

4.0K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.6K

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
688