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

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

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

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

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

FOXN1 gene variants cause low T cells and immune issues from birth.

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

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

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

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

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

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

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

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

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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.

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

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

Hairless gene not strongly linked to baldness.

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.