X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

BACKGROUND: X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecul...

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Detalhes bibliográficos
Main Authors: Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022384/
https://ncbi.nlm.nih.gov/pubmed/24721225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-49
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