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Baimao Zhong on Muck Rack

Baimao Zhong

As seen in: Frontiers
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Articles

Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome

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By Chanchan Li, Mingyu Xie, Qi Peng, Xiaomei Lu, Baimao Zhong
| Frontiers
Abstract Rauch-Steindl syndrome (RAUST) is a very rare genetic syndrome caused by pathogenic variants in the NSD2 gene on chromosome 4p16.3. Its clinical phenotype resembles that of Wolf-Hirschhorn syndrome (WHS) but is generally milder. Using whole-exome sequencing (WES), we identified a novel de novo deletion spanning exons 6–22 of the NSD2 gene in a 6-year-old Chinese boy diagnosed with RAUST.
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