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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 new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

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

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

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

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

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

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

A mutation in the KRT74 gene causes tightly curled hair.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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

Arab APS1 patients have unique and recurrent AIRE gene mutations.

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

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

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.

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

The new model helps understand and develop treatments for genetic skin disorders like AEC.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.