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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Iourov, Ivan Y., Vorsanova, Svetlana G., Korostelev, Sergei A., Zelenova, Maria A., Yurov, Yuri B.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4608298/
https://ncbi.nlm.nih.gov/pubmed/26478745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0182-z
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