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A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

New LSS gene variants help understand congenital hypotrichosis 14 better.

Björnstad syndrome causes twisted hair from birth.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Some people have a genetic variation that makes them less effective at breaking down drugs.

Deleting MED1 in skin cells causes hair loss and skin changes.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.