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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.

High levels of ODC and a mutant Ha-ras gene cause tumors in mice.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A specific mutation in PA-PLA1α causes abnormal hair growth.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

New genetic mutations causing hair loss were found in a Chinese family.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A mutation in the KRT74 gene causes tightly curled hair.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A gene mutation in mice causes skin defects and early death.