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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022384/
https://www.ncbi.nlm.nih.gov/pubmed/24721225
http://dx.doi.org/10.1186/1750-1172-9-49

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022384/
https://www.ncbi.nlm.nih.gov/pubmed/24721225
http://dx.doi.org/10.1186/1750-1172-9-49

Ejemplares similares