A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]
Pharmgenomics Pers MedChen L +9 more
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Joubert syndrome: a rare cause of hypotonia with developmental delay
Himanshu Narayan Singh +4 more
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Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]
Korean J OphthalmolGoh YH, Hwang S, Kim SJ.
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Joubert syndrome labeled as hypotonic cerebral palsy.
, 2014 Lubna H. Dekair +2 more
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Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism. [PDF]
J Mov DisordHwangbo J +4 more
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A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]
Indian J NephrolShankar M +6 more
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Prenatal diagnosis of Joubert syndrome: A case report.
Radiol Case RepYen VTH.
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Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]
HGG AdvBetz C +5 more
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Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review. [PDF]
CureusAlhashimi I +5 more
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Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. [PDF]
Int J Mol SciDeconte D +7 more
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