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Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature.
Clin Dysmorphol. 2020 Apr;29(2):90-96. doi: 10.1097/MCD.0000000000000303.
Clin Dysmorphol. 2020.
PMID: 31609727
Review.
No abstract available.
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Gokce-Samar Z, de Bellescize J, Arzimanoglou A, Putoux A, Chatron N, Lesca G, Portes VD.
Gokce-Samar Z, et al.
Eur J Med Genet. 2022 Dec;65(12):104636. doi: 10.1016/j.ejmg.2022.104636. Epub 2022 Oct 7.
Eur J Med Genet. 2022.
PMID: 36216271
Review.
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. ...To the best of our knowledge, this is the first case of STAG2 encephalopathy fulfilling a …
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual d …
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