SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

@article{Dauber2013SCRIBAP,
  title={SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.},
  author={Andrew Dauber and Christelle Golzio and C{\'e}cile Guenot and Francine M. Jodelka and Mar{\'i}a Kibaek and Susanne Kjaergaard and Bruno P. Leheup and Danielle Martinet and Małgorzata J M Nowaczyk and Jill A Rosenfeld and Susan Zeesman and Janice Zunich and Jacques S. Beckmann and Joel Hirschhorn and Michelle L. Hastings and S{\'e}bastien Jacquemont and Nicholas Katsanis},
  journal={American journal of human genetics},
  year={2013},
  volume={93 5},
  pages={798-811}
}
Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three genes: SCRIB, NRBP2, and PUF60. In vivo dissection of the CNV showed discrete… CONTINUE READING
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