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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.

Pavone PieroMartino RuggieriSimona D MarinoGiovanni CorselloXena PappalardoAgata PolizziEnrico ParanoCatia RomanoSilvia MarinoAndrea Domenico PraticòRaffaele Falsaperla
Published in: Molecular genetics & genomic medicine (2020)
This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals.
Keyphrases
  • autism spectrum disorder
  • endothelial cells
  • copy number
  • gene expression
  • cord blood