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Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics

Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism...

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書誌詳細
出版年:Balkan J Med Genet
主要な著者: Ivanov, HY, Stoyanova, V, Ivanov, I, Linev, A, Vazharova, R, Ivanov, S, Balabanski, L, Toncheva, D
フォーマット: Artigo
言語:Inglês
出版事項: Sciendo 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454245/
https://ncbi.nlm.nih.gov/pubmed/30984527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2018-0021
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