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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.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

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

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.

Mutations in the KRT85 gene cause hair and nail problems.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

SQSTM1 is linked to increased risk of alopecia areata.

A mutation in the KRTHB5 gene causes hair and nail issues.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Researchers found a new mutation causing total hair loss from birth.

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.

A gene mutation causes curly hair and hair loss in rats.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Defective protein folding due to a mutation is key in ANE syndrome.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

5% topical minoxidil improves hair density and quality in monilethrix patients.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

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

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.