Ontology highlight
ABSTRACT:
SUBMITTER: Rupp V
PROVIDER: S-EPMC4258795 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
BMC medical genetics 20141011
<h4>Background</h4>Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities.<h4>Case presentation</h4>In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing and using bioinformatical approaches the disease causing mutation was i ...[more]