Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings-Reference-Cited by-同舟云学术

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings

Published:2022-01-02 Issue:1 Volume:28 Page:11-18
ISSN:1355-4794
Container-title:Neurocase
language:en
Short-container-title:Neurocase

Author:

Irene Díez García-Prieto I¹,Lopez-Martín Sara²³,Albert Jacobo²,Jiménez de la Peña Mar⁴,Fernández-Mayoralas Daniel Martín⁵,Calleja-Pérez Beatriz⁶,Gómez Fernández María Teresa⁷,Álvarez Sara¹,Pihlajaniemi Taina⁸,Izzi Valerio⁸,Fernández-Jaén Alberto⁵⁹

Affiliation:

1. Genomics and Medicine, NIMGenetics, Madrid, Spain

2. Faculty of Psychology, Universidad Autónoma De Madrid, Madrid, Spain

3. Neuromottiva, Madrid, Spain

4. Department of Radiology, Neuroimaging. Hospital Universitario Quirónsalud, Madrid, Spain

5. Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain

6. Pediatric Primary Care, C. S. Doctor Cirajas, Madrid, Spain

7. Ophthalmology, ATAM Center, Madrid, Spain

8. Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell-Matrix Research and Biocenter, University of Oulu, Oulu, Finland

9. School of Medicine, Universidad Europea De Madrid, Madrid, Spain

Funder

Comunidad de Madrid