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Journals
Journal of Mother and Child
Volume 26 (2022): Issue 1 (March 2022)
Open Access
Joubert syndrome: Molecular basis and treatment
Lidvana Spahiu
Lidvana Spahiu
,
Emir Behluli
Emir Behluli
,
Violeta Grajçevci-Uka
Violeta Grajçevci-Uka
,
Thomas Liehr
Thomas Liehr
and
Gazmend Temaj
Gazmend Temaj
| Feb 22, 2023
Journal of Mother and Child
Volume 26 (2022): Issue 1 (March 2022)
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Article Category:
Review articles
Published Online:
Feb 22, 2023
Page range:
118 - 123
Received:
Jul 13, 2022
Accepted:
Sep 30, 2022
DOI:
https://doi.org/10.34763/jmotherandchild.20222601.d-22-00034
Keywords
Joubert syndrome (JS)
,
clinical and molecular diagnosis
,
ciliopathies
,
therapeutic options
© 2022 Lidvana Spahiu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Lidvana Spahiu
Department of Pediatrics, University of Prishtina
Prishtina, Kosovo
Emir Behluli
Department of Pediatrics, University of Prishtina
Prishtina, Kosovo
Violeta Grajçevci-Uka
Department of Pediatrics, University of Prishtina
Prishtina, Kosovo
Thomas Liehr
Institut für Humangenetik, Universitätsklinikum Jena, Friedrich Schiller Universität
Jena, Germany
Gazmend Temaj
Human Genetics, College UBT, Faculty of Pharmacy Prishtina
Prishtina, Kosovo