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

@inproceedings{Philips2014XexomeSI,
  title={X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes},
  author={Anju K Philips and Auli Sir{\'e}n and Kristiina Avela and Mirja Somer and Maarit M Peippo and Minna Ahvenainen and Fatma Doagu and Maria Arvio and Helena A. K{\"a}{\"a}ri{\"a}inen and Hilde van Esch and Guy Froyen and Stefan A. Haas and Hao Hu and Vera M. Kalscheuer and Irma E. J{\"a}rvel{\"a}},
  booktitle={Orphanet journal of rare diseases},
  year={2014}
}
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 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… CONTINUE READING
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Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

  • SM van der Maarel, IH Scholten, +6 authors HH Ropers
  • 1996
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