Ontology highlight
ABSTRACT:
SUBMITTER: Kalmar T
PROVIDER: S-EPMC8110363 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Kalmár Tibor T Szakszon Katalin K Maróti Zoltán Z Zimmermann Alíz A Máté Adrienn A Zombor Melinda M Bereczki Csaba C Sztriha László L
Journal of pediatric genetics 20200528 2
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. In the girl, exome sequencing of a gene set representing 4,813 genes revealed a homozygous AG deletion in exon 7 of the WDR81 gene, leading to a frameshift (c.4668_4669delA ...[more]