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A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

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

The CORIN gene variant causes the golden color in Siberian cats.

A genetic variant linked to hair thinning in Japanese women was found.

Connexin mutations can cause various diseases like hearing loss and skin disorders.

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

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

A gene variation is linked to hair thickness in Asians.

Two gene variants cause white spots in cattle.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

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.

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

A new mutation in mice causes crooked whiskers and messy hair.

A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

A truncated protein linked to breast cancer may change cell adhesion.

HSD11b1 affects skin nerves and increases non-histaminergic itch.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

Genetic testing can diagnose hair loss linked to DSG4 gene variants.

A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.

A new gene variant causes curly coats in some dog breeds.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Certain gene variants can influence acne risk and severity.

The FGF5 gene determines hair length in dogs.