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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...
Autores principales: | Ivanov, HY, Stoyanova, V, Ivanov, I, Linev, A, Vazharova, R, Ivanov, S, Balabanski, L, Toncheva, D |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454245/ https://www.ncbi.nlm.nih.gov/pubmed/30984527 http://dx.doi.org/10.2478/bjmg-2018-0021 |
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