Format:
Online-Ressource
ISSN:
1875-9041
Content:
Abstract: Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys and liver, defining a group of conditions termed syndrome and Joubert syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in the development and stability of the primary cilium. Correlations genotype–phenotype are emerging between clinical presentations and mutations in JSRD genes, with implications in terms of molecular diagnosis, prenatal diagnosis, follow-up, and management of mutated patients.
In:
volume:21
In:
number:01
In:
year:2023
In:
pages:023-032
In:
Journal of pediatric neurology, [New York] : Thieme Publishers New York, 2003-, 21, Heft 01 (2023), 023-032, 1875-9041
Language:
English
DOI:
10.1055/s-0042-1760242
URN:
urn:nbn:de:101:1-2023030910362383607306
URL:
https://doi.org/10.1055/s-0042-1760242
URL:
https://nbn-resolving.org/urn:nbn:de:101:1-2023030910362383607306
URL:
https://d-nb.info/1282902822/34
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