Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

@article{Bagheri2016IdentifyingCG,
  title={Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.},
  author={Hani Bagheri and Chansonette Badduke and Ying Qiao and Rita Colnaghi and Iga Abramowicz and Diana Alcantara and Christopher Dunham and Jiadi Wen and Robert S. Wildin and Małgorzata J M Nowaczyk and Jennifer N. Eichmeyer and Anna Lehman and Bruno Maranda and Sally Martell and Xianghong Shan and Suzanne M E Lewis and Mark O'Driscoll and Cheryl Y. Gregory-Evans and Evica Rajcan-Separovic},
  journal={JCI insight},
  year={2016},
  volume={1 3},
  pages={
          e85461
        }
}
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candidate genes. Recent reports pointed to 4 genes (XPO1, USP34, BCL11A, and REL) that were included, alone… CONTINUE READING

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