Article
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
Neurocase - 1 Feb 2022
Irene Díez García-Prieto I, Lopez-Martín Sara, Albert Jacobo, Jiménez de la Peña Mar, Fernández-Mayoralas Daniel Martín, Calleja-Pérez Beatriz, Gómez Fernández María Teresa, Álvarez Sara, Pihlajaniemi Taina, Izzi Valerio, Fernández-Jaén Alberto
Abstract excerpt
. COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.1787C>T). Hypermetropic astigmatism, but not brain migration disorders, was observed. However, an asymmetric pattern of cerebellar perfusion and a smaller arcuate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.