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Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil +3 more
doaj +1 more source
Rare case of a floppy neonate: Joubert syndrome
Current Medicine Research and Practice, 2021 Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur +4 more
doaj +1 more source
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Journal of Medical Genetics, 2023 Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases.
Valentina Serpieri +27 more
semanticscholar +1 more source
Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders
Cureus, 2023 Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements.
H. Mano +8 more
semanticscholar +1 more source
TOPORS as a novel causal gene for Joubert Syndrome
American Journal of Medical Genetics. Part A, 2023 Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign.
A. Strong +7 more
semanticscholar +1 more source
BMC Medical Genomics, 2023 Background KIAA0586 , also known as Talpid3 , plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and ...
Yue Shen +7 more
semanticscholar +1 more source
A novel non-sense variant in the OFD1 gene caused Joubert syndrome
Frontiers in Genetics, 2023 Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology.
Chen Li +9 more
semanticscholar +1 more source
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
Medicine, 2023 Introduction: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. Patient concerns:
P. Duque-Cordoba +3 more
semanticscholar +1 more source
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. [PDF]
, 2015 Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes.
Daniel J. Jagger +21 more
core +1 more source