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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ivanov, HY, Stoyanova, V, Ivanov, I, Linev, A, Vazharova, R, Ivanov, S, Balabanski, L, Toncheva, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Case Report
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

Internet

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

Ejemplares similares