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A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A gene mutation causes monilethrix in a Chinese family.

Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.

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

Certain genetic markers may increase or decrease prostate cancer risk.

A specific gene mutation causes congenital hair loss.

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

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Defective protein folding due to a mutation is key in ANE syndrome.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

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

Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A specific gene mutation causes long hair in Angora rabbits.

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.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Some prostate cancers have gene changes that may affect treatment with certain drugs.

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

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

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

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.