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

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Some hair loss disorders are caused by genetic mutations affecting hair growth.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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 new mutation in the Hairless gene causes hair loss in two Pakistani families.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

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

A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.

DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.

Targeting ornithine decarboxylase can help prevent skin cancer.

A mouse gene mutation increases the risk of skin cancer.

Removing part of the vitamin D receptor stops vitamin D from working properly.

CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.

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

PTCH gene mutations contribute to basal cell carcinoma development.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.

A new mutation in the HR gene causes hair loss in a specific family.