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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Detalhes bibliográficos
Publicado no:Balkan J Med Genet
Main Authors: Ivanov, HY, Stoyanova, V, Ivanov, I, Linev, A, Vazharova, R, Ivanov, S, Balabanski, L, Toncheva, D
Formato: Artigo
Idioma:Inglês
Publicado em: Sciendo 2018
Assuntos:
Case Report
Acesso em linha: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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