A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference23 articles.
1. Invited article: an MRI-based approach to the diagnosis of white matter disorders;Schiffmann;Neurology,2009
2. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2;Inoue;Neurogenetics,2005
3. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease;Henneke;Neurology,2010
4. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease;Uhlenberg;Am J Hum Genet,2004
5. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation;Feinstein;Am J Hum Genet,2010
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1. Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX;Human Genome Variation;2024-08-16
2. Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47;Biomolecules;2023-04-21
3. Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease;Minerva Pediatrics;2023-02
4. Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review;Molecular Syndromology;2023
5. Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay;Clinical Case Reports;2022-07
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