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A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

The study identified a key protein involved in producing underarm odor and found ways to inhibit it.

Danon disease can be hard to diagnose due to non-specific symptoms.

Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.

A new gene variant causes glucocorticoid resistance in a mother and son.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.