Article

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

2025-08-27

Abstract excerpt

<title>Abstract</title> <p><bold>Background :</bold> Senior-Løken Syndrome (SLSN) is a rare autosomal recessive typically ciliopathy characterized by nephronophthisis and retinal dystrophy. Nephronophthisis, a leading genetic cause of chronic kidney disease (CKD) in children and young adults, is characterized by progressive tubulointerstitial fibrosis, tubular atrophy, and cyst formation, ultimately leading to en...

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Literature Corpus work: 4f590418-2c8d-5e8a-8157-6fdbf56e2913
DOI: 10.21203/rs.3.rs-7432684/v1

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