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

Principais autores:	Ivanov HY, Stoyanova V, Ivanov I, Linev A, Vazharova R, Ivanov S, Balabanski L, Toncheva D
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Sciendo 2018-12-01
coleção:	Balkan Journal of Medical Genetics
Assuntos:	deletion at 9q21.1 interstitial deletion single nucleotide polymorphism (snp)-array
Acesso em linha:	https://doi.org/10.2478/bjmg-2018-0021
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