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This study found that combined treatment with anastrozole and cyproterone acetate improved the adult height prognosis in testotoxicosis, as observed in two brothers, with good tolerance reported.

This study found that specific mutations in the spike protein of SARS-CoV-2 may significantly alter its structure and affect how it binds to certain inhibitors, but experimental studies are needed to confirm potential clinical implications.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.