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Pierpont syndrome‐Report of a new patient
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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| Publicado en: | Clin Case Rep |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8077337/ https://ncbi.nlm.nih.gov/pubmed/33936649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3959 |
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