Ontology highlight
ABSTRACT:
SUBMITTER: Azmanov DN
PROVIDER: S-EPMC3865571 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Azmanov Dimitar N DN Chamova Teodora T Tankard Rick R Gelev Vladimir V Bynevelt Michael M Florez Laura L Tzoneva Dochka D Zlatareva Dora D Guergueltcheva Velina V Bahlo Melanie M Tournev Ivailo I Kalaydjieva Luba L
Molecular genetics & genomic medicine 20130422 2
Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with multiple rare/novel "deleterious" variants occurring in the homozygous state in the affected individuals. Step-wise filtering was facilitated by the inclusion of parental samples in the analysis and the ...[more]