Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference22 articles.
1. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis;Andrieux;Eur J. Med. Genet.,2008
2. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44;Ballif;Hum. Genet.,2012
3. C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain;Becker;Int. J. Dev. Neurosci.,1997
4. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am. J. Hum. Genet.,2007
5. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis;van Bon;J. Med. Genet.,2008
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2. A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures;BMC Medical Genomics;2023-01-09
3. Heterogeneous nuclear ribonucleoprotein U-actin complex derived from extracellular vesicles facilitates proliferation and migration of human coronary artery endothelial cells by promoting RNA polymerase II transcription;Bioengineered;2022-05-02
4. Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay;Frontiers in Genetics;2021-05-20
5. A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion;Cytogenetic and Genome Research;2019
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