Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
Nikhil Sahajpal,
Catherine Ziats,
Alka Chaubey
et al.
Abstract: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 this type. More commonly, duplication of XLID genes results in very different phenotypes than sequence… Show more
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