We report on a 6-year-old girl with Pierpont Syndrome who was diagnosed using the whole-exome sequencing technique. In addition to commonly recognized traits, our patient had scoliosis, a feature reported only in one other occasion.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337 | PMC |
| http://dx.doi.org/10.1002/ccr3.3959 | DOI Listing |
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