Article
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
PloS one - 1 Jan 2016
Cáceres Alejandro, Esko Tõnu, Pappa Irene, Gutiérrez Armand, Lopez-Espinosa Maria-Jose, Llop Sabrina, Bustamante Mariona, Tiemeier Henning, Metspalu Andres, Joshi Peter K, Wilsonx James F, Reina-Castillón Judith, Shin Jean, Pausova Zdenka, Paus Tomáš, Sunyer Jordi, Pérez-Jurado Luis A, González Juan R
Abstract excerpt
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism...
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