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Article

The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.

American journal of medical genetics. Part A - 1 Mar 2022

Meng Lu, Kaufmann Walter E, Frye Richard E, Ong Katherine, Kaminski Jennifer W, Velinov Milen, Berry-Kravis Elizabeth

Abstract excerpt

Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numbers of CGG repeats between the two alleles, such that in addition to a full mutation allele there is an allele in the normal or premutation range of CGG repeats, while methylation mosaicism indicates whether a full-mutation allele is fully or partially methylated. The present study...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35148024
DOI: 10.1002/ajmg.a.62594
PMCID: PMC10948005

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