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Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
BACKGROUND: Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of the regions of the genome that are associated with brain development and function. However, these chromosomal regions usually co...
Autores principales: | Kashevarova, Anna A, Nazarenko, Lyudmila P, Schultz-Pedersen, Soren, Skryabin, Nikolay A, Salyukova, Olga A, Chechetkina, Nataliya N, Tolmacheva, Ekaterina N, Rudko, Aleksey A, Magini, Pamela, Graziano, Claudio, Romeo, Giovanni, Joss, Shelagh, Tümer, Zeynep, Lebedev, Igor N |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299808/ https://www.ncbi.nlm.nih.gov/pubmed/25606055 http://dx.doi.org/10.1186/s13039-014-0097-0 |
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