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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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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Kaplan, Kevin, McCool, Caroline, Lupski, James R., Glaze, Daniel, Potocki, Lorraine
Format: Artigo
Idioma:Inglês
Publicat: 2019
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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