Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Eevi Kaasinen, Elisa Rahikkala, Peppi Koivunen, Sirpa Miettinen, Mirjam M. C. Wamelink, Mervi Aavikko, Kimmo Palin, Johanna Myllyharju, Jukka S. Moilanen, Leila Pajunen, Auli Karhu, Lauri A. Aaltonen

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume57
Issue number10
Pages (from-to)543-551
Number of pages9
ISSN1769-7212
DOIs
Publication statusPublished - Oct 2014
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Profound syndromic intellectual disability
  • Autosomal recessive
  • Consanguineous family
  • Homozygosity mapping
  • Whole-genome sequencing
  • TKT
  • P4HTM
  • USP4
  • TRANSMEMBRANE PROLYL 4-HYDROXYLASE
  • PENTOSE-PHOSPHATE PATHWAY
  • COGNITIVE DISORDERS
  • MENTAL-RETARDATION
  • MUTATIONS
  • DEFICIENCY
  • 3111 Biomedicine

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