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Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis

BACKGROUND: Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been systematically addressed in clinical cohorts. Here...

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Detalles Bibliográficos
Autores principales: Vorsanova, Svetlana G., Demidova, Irina A., Kolotii, Alexey D., Kurinnaia, Oksana S., Kravets, Victor S., Soloviev, Ilya V., Yurov, Yuri B., Iourov, Ivan Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897849/
https://www.ncbi.nlm.nih.gov/pubmed/35248137
http://dx.doi.org/10.1186/s13039-022-00588-z