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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Czakó, Márta, Till, Ágnes, Zima, Judith, Zsigmond, Anna, Szabó, András, Maász, Anita, Melegh, Béla, Hadzsiev, Kinga
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021
Schlagworte:
Online Zugang: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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