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

Guardado en:
Detalles Bibliográficos
Publicado en:Balkan J Med Genet
Autores principales: Ivanov, HY, Stoyanova, V, Ivanov, I, Linev, A, Vazharova, R, Ivanov, S, Balabanski, L, Toncheva, D
Formato: Artigo
Lenguaje:Inglês
Publicado: Sciendo 2018
Materias:
Case Report
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares