Expanding The Senior-Løken Syndrome Spectrum: Combined Rothmund-Thomson Features Unveil The Distinct Teelwani Syndrome Phenotype

    August 2025
    Mehraj ul islam, Muzafar Maqsood Wani, Amir Farooq … Qadar un Nisaa
    Studysummary In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
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