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

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

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.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

Researchers found a new mutation causing total hair loss from birth.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

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

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

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

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

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

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

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

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

Mutation in hairless gene may increase hair loss risk.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

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

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Mutation in hairless gene may increase hair loss risk.