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Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

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.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

Disrupted cholesterol production impairs hair follicle stem cells, leading to hair loss.

Found different proteins in balding and non-balding cells, giving insight into hair loss causes.