학술논문
INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms.
Document Type
Article
Author
Source
Subject
*PHENOTYPES
*DEVELOPMENTAL delay
*RESEARCH personnel
*MICROCEPHALY
*PERIODICAL publishing
*GENE targeting
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Language
ISSN
0174-304X
Abstract
This article, published in the journal Neuropediatrics, discusses the genetic and phenotypic spectrum of INPP4A, a gene involved in controlling cellular processes. The study focuses on a girl with postnatal microcephaly, developmental delay, and other symptoms, who carried a novel homozygous INPP4A variant. The researchers found that different isoforms of INPP4A have specific subcellular targeting, and this targeting is disrupted by the pathogenic variants. The study suggests that INPP4A isoforms have an important function in the brain. [Extracted from the article]