In this case study, mosaic maternal uniparental disomy of chromosome 15 was identified as the cause of Prader–Willi syndrome in a patient through combined genetic analyses, emphasizing that mosaicism might lead to missed diagnoses if only blood tests are used.
January 2019 in “Spectrum Research Repository (Concordia University)” This study observed that topiramate treatment in female zebrafish may impair genetic transmission to offspring, reducing expression of certain skeletal development-related genes in embryos.
In this case report, a 38-year-old woman with lifelong monilethrix and progressive frontal scalp thinning associated with androgenetic alopecia highlights the diagnostic and management challenges when these hair conditions coexist.
In this case study, a 38-year-old woman with monilethrix, a hair shaft disorder causing hair fragility, was also diagnosed with androgenetic alopecia, leading the authors to emphasize the complexity in diagnosing and managing such combined hair conditions.
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.