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Article

Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.

Clinical genetics - 1 Feb 2024

Sahajpal Nikhil, Ziats Catherine, Chaubey Alka, DuPont Barbara R, Abidi Fatima, Schwartz Charles E, Stevenson Roger E

Abstract excerpt

Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as sequence variants or deletions of the same gene. Duplication of PLP1, the gene associated with Pelizaeus-Merzbacher syndrome, is the most notable duplication of...

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Identifiers

PMID: 37899624
DOI: 10.1111/cge.14445

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