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

A mutation in the KRTHB5 gene causes hair and nail issues.

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

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

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A genetic variant in the KRT25 gene causes tightly curled hair.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

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 genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

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

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A gene variant causes a skin and hair disorder by disrupting protein balance.

Aromatase gene variation may increase female hair loss risk.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

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