Title: X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
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 #
Issue Date: Apr-2014
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:9 issue:1 pages:49-49
Abstract: 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 molecular gene mutations relevant for diagnosis.Methods & objectives: Enrichment of X-chromosome specific exons and massively parallel sequencing was performed for identifying the causative mutations in 14 Finnish families, each of them having several males affected with intellectual disability of unknown cause.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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