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15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease
15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrosp...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Riyadh : Armed Forces Hospital
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424984/ http://dx.doi.org/10.17712/nsj.2022.3.20220033 |