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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
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

Internet

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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