January 2025 in “Dermatology Practical & Conceptual” In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
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.
35 citations
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May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses the current understanding of androgen biosynthesis, mechanisms of action, and their roles in human biology, as well as related congenital and acquired disorders, but it reports no new research findings.
32 citations
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January 2007 in “KARGER eBooks” This review discusses severe insulin resistance syndromes, highlighting their diagnostic challenges, potential novel therapies like leptin replacement, and suggests metformin and lifestyle changes in its absence; no new clinical results are reported.