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Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation

Among the diseases with X-linked inheritance and intellectual disability, duplication of the Xp11.23p11.22 region is indeed a rare phenomenon, with less than 90 cases known in the literature. Most of them have been recognized with the routine application of array techniques, as these copy number var...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Czakó, Márta, Till, Ágnes, Zima, Judith, Zsigmond, Anna, Szabó, András, Maász, Anita, Melegh, Béla, Hadzsiev, Kinga
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8080037/
https://ncbi.nlm.nih.gov/pubmed/33936165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.635458
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