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About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

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

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

CXCR2 in skin cells promotes tumor growth.

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

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

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

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.

Scientists created a cell model to study and find treatments for a skin disease called RDEB.

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

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

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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

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

A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.

Rac1 is crucial for normal hair structure and pigmentation.

A gene mutation in mice causes permanent hair loss and skin issues.

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

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.

A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.