2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference13 articles.
1. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am. J. Hum. Genet.,2010
2. Altered DNA copy number in patients with different seizure disorder type: by array-CGH;Kim;Brain Dev.,2007
3. Detection of microchromosomal aberrations in refractory epilepsy: a pilot study;McMahon;Epileptic Disord.,2010
4. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features;Chung;Am. J. Med. Genet. A,2011
5. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?;Jaillard;J. Med. Genet.,2009
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1. A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia;International Journal of Molecular Sciences;2023-08-09
2. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene;Journal of Alzheimer's Disease;2021-10-26
3. A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review;Molecular Genetics & Genomic Medicine;2020-01-28
4. A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?;Molecular Genetics & Genomic Medicine;2019-07-09
5. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy;European Journal of Medical Genetics;2017-10
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