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

Eevi Kaasinen,E. Rahikkala,P. Koivunen,S. Miettinen,M. Wamelink,M. Aavikko,Kimmo Palin,J. Myllyharju,J. Moilanen,L. Pajunen,A. Karhu,L. Aaltonen

Published 2014 in European Journal of Medical Genetics

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