@article{51312cdb6dfd4c58bffa43da5a268043,
title = "Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome",
keywords = "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",
author = "Eevi Kaasinen and Elisa Rahikkala and Peppi Koivunen and Sirpa Miettinen and Wamelink, {Mirjam M. C.} and Mervi Aavikko and Kimmo Palin and Johanna Myllyharju and Moilanen, {Jukka S.} and Leila Pajunen and Auli Karhu and Aaltonen, {Lauri A.}",
year = "2014",
month = oct,
doi = "10.1016/j.ejmg.2014.07.002",
language = "English",
volume = "57",
pages = "543--551",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Scientific Publ. Co",
number = "10",
}