Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

BACKGROUND: Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination...

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Detalles Bibliográficos
Autores principales: Iourov, Ivan Y., Vorsanova, Svetlana G., Korostelev, Sergei A., Zelenova, Maria A., Yurov, Yuri B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608298/
https://www.ncbi.nlm.nih.gov/pubmed/26478745
http://dx.doi.org/10.1186/s13039-015-0182-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608298/
https://www.ncbi.nlm.nih.gov/pubmed/26478745
http://dx.doi.org/10.1186/s13039-015-0182-z

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