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Objective Measures of Sleep Disturbances in Children with Potocki-Lupski Syndrome
BACKGROUND: Potocki-Lupski syndrome (PTLS; MIM 610883) is a neurodevelopmental disorder caused by a micro-duplication, a 3.7 Mb copy number variant (CNV), mapping within chromosome 17p11.2, encompassing the dosage sensitive RAI1 gene. Whereas RAI1 triplosensitivity causes PTLS, haploinsufficiency of...
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| Publicat a: | Am J Med Genet A |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6953247/ https://ncbi.nlm.nih.gov/pubmed/31342617 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61307 |
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