Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue involvement, including joint hypermobility, progressive scoliosis, pectus deformity, and skin hyperextensibility; no overgrowth was observed.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666520 | PMC |
| http://dx.doi.org/10.1038/s41439-022-00219-4 | DOI Listing |
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