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Article

X-Linked intellectual disability update 2022.

American journal of medical genetics. Part A - 1 Jan 2023

Schwartz Charles E, Louie Raymond J, Toutain Annick, Skinner Cindy, Friez Michael J, Stevenson Roger E

Abstract excerpt

Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X-chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of...

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PMID: 36300573
DOI: 10.1002/ajmg.a.63008

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