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A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report
Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have been distinguished: region 1, from the centromere t...
Autores principales: | Pavone, Piero, Falsaperla, Raffaele, Ruggieri, Martino, Marino, Simona Domenica, Parano, Enrico, Pappalardo, Xena Giada |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471428/ https://www.ncbi.nlm.nih.gov/pubmed/37663643 http://dx.doi.org/10.1055/s-0043-1774291 |
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