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Powell L, Olinger E, Wedderburn S, et al. Identification of . Brain Commun. 2021;3(3):fcab163doi: 10.1093/braincomms/fcab163.
Powell, L., Olinger, E., Wedderburn, S., Ramakumaran, V. S., Kini, U., Clayton-Smith, J., Ramsden, S. C., Rice, S. J., Barroso-Gil, M., Wilson, I., Cowley, L., Johnson, S., Harris, E., Montgomery, T., Bertoli, M., Boltshauser, E., & Sayer, J. A. (2021). Identification of . Brain communications, 3(3), fcab163. https://doi.org/10.1093/braincomms/fcab163
Powell, Laura, et al. "Identification of ." Brain communications vol. 3,3 (2021): fcab163. doi: https://doi.org/10.1093/braincomms/fcab163
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of . Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. PMID: 34423300; PMCID: PMC8374969.
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Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021.

Identification of .

Brain communications

Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Eugen Boltshauser, John A Sayer

Affiliations

  1. Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  2. Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.
  3. Clinical Genetics, Oxford University Hospital, Oxford, UK.
  4. Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.
  5. Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  6. Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  7. Paediatric Neurology (Emeritus), Children's University Hospital, Zürich, Switzerland.

PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163

Abstract

Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical, radiological and genetic data for several families with a clinical diagnosis of Joubert syndrome but negative genetic analysis. We detected biallelic pathogenic variants in

© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

Keywords: Joubert syndrome; LAMA1; Poretti–Boltshauser syndrome; cerebellar cysts; cerebellar dysplasia

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