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A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

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

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

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

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

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

Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

The 4C32 gene may help in mouse skin development and differentiation.

Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A mutation in the KRT25 gene causes woolly hair and hair loss.

CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.

PCOS involves genetic and immune factors, especially T cells, affecting its development.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

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

Inherited color dilution in rabbits is linked to DNA methylation changes.