Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Abstract excerpt

Subtelomeric rearrangements involving chromosome 6q have been reported in a limited number of studies. Although the sizes are very variable, ranging from cytogenetically visible deletions to small submicroscopic deletions, a common recognizable phenotype associated with a 6q deletion could be dis...

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