Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

BACKGROUND: Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, is chromosomal microarray (CMA). However, this methodology is...

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Detalles Bibliográficos
Autores principales: Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623912/
https://www.ncbi.nlm.nih.gov/pubmed/36320065
http://dx.doi.org/10.1186/s13039-022-00623-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623912/
https://www.ncbi.nlm.nih.gov/pubmed/36320065
http://dx.doi.org/10.1186/s13039-022-00623-z

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