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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

BACKGROUND: Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome,...

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Detalles Bibliográficos
Autores principales: Chaves, Tiago Fernando, Oliveira, Luan Freitas, Ocampos, Maristela, Barbato, Ingrid Tremel, de Luca, Gisele Rozone, Barbato Filho, Jorge Humbeto, de Camargo Pinto, Louise Lapagesse, Bernardi, Pricila, Maris, Angelica Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417136/
https://www.ncbi.nlm.nih.gov/pubmed/30866944
http://dx.doi.org/10.1186/s12920-019-0496-5