Article

Joubert syndrome combined with multiple hereditary diseases: a case report

2025-09-30

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Joubert syndrome (JS) is a rare autosomal recessive ciliopathy that often overlaps clinically and genetically with other ciliopathies such as nephronophthisis (NPHP), Senior–Løken syndrome (SLSN), and Bardet–Biedl syndrome (BBS). Patients frequently progress to end-stage renal disease (ESRD), but data on kidney transplantation outcomes in individuals with mult...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2c8dbb86-5b16-5711-9811-b85005c88177
DOI: 10.21203/rs.3.rs-7306250/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Joubert syndrome combined with multiple hereditary diseases: a case reportDOI 10.21203/rs.3.rs-7306250/v1Read

Clinical characteristics of individual organ system disease in non-motile ciliopathiesSemantic proximity Read

Renal cystic disease and associated ciliopathiesSemantic proximity Read

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.Semantic proximity Read

Renal Pathology of CiliopathiesSemantic proximity Read

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathySemantic proximity Read

Ciliopathies.Semantic proximity Read

NephronophthisisSemantic proximity Read

Joubert Syndrome and related disordersSemantic proximity Read

Nephronophthisis: A Genetically Diverse CiliopathySemantic proximity Read

Prospective Evaluation of Kidney Disease in Joubert Syndrome.Semantic proximity Read

Genetic and Clinical Evaluation of Pediatric Cystic Kidney Diseases: Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease.Semantic proximity Read

Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotypeSemantic proximity Read