research Loose Anagen Hair Syndrome in Two Patients with Epidermolysis Bullosa Simplex, Dowling-Meara Type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
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research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Structure of Human Steroid 5α-Reductase 2 with the Anti-Androgen Drug Finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
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