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.
20 citations
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March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
2 citations
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November 2019 in “Cancer reports” This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.
2 citations
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January 2017 in “Journal of Pigmentary Disorders” This study explores the complex and not yet fully understood causes of premature hair greying, noting genetic factors such as Pax3 and MITE genes, potential defects in melanin transfer, and associations with certain syndromes, while stating that effective treatments are currently lacking.
36 citations
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August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.