Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference22 articles.
1. Decreased placental X-linked inhibitor of apoptosis protein in an ovine model of intrauterine growth restriction;Arroyo;Am. J. Obstet. Gynecol.,2008
2. Could a patient with SMC1A duplication be classified as a human cohesinopathy?;Baquero-Montoya;Clin. Genet.,2014
3. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation;Bonnet;Am. J. Med. Genet. Part A,2009
4. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation;Bragin;Nucleic Acids Res.,2014
5. A copy number variation morbidity map of developmental delay;Cooper;Nat. Genet.,2011
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1. STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes;European Journal of Medical Genetics;2022-12
2. Nonsense variants of STAG2 result in distinct congenital anomalies;Human Genome Variation;2020-09-18
3. Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature;Clinical Dysmorphology;2020-04
4. STAG Mutations in Cancer;Trends in Cancer;2019-08
5. RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes;Journal of Human Genetics;2019-02-14
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