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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |
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