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Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Hum Mutat. 2014 Mar;35(3):377-83. doi: 10.1002/humu.22497.
Hum Mutat. 2014.
PMID: 24357492
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.
El-Hattab AW, et al.
J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.
J Med Genet. 2011.
PMID: 21984752
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