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The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

A new gene mutation causes insulin resistance in a girl and her mother.

A specific gene mutation causes different hair defects in Indian monilethrix families.

Two genetic variations in Moa buffalo help them adapt to heat.

Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.

A specific genetic deletion in goats affects cashmere yield and thickness.

Two new gene mutations cause a rare hair disorder.

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

Goat skin adapts to seasonal changes through genes that respond to daylight length, affecting hormone levels and potentially making skin cells light-sensitive.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

DNA methylation changes are linked to skin diseases with inflammation.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

The HCR gene contributes to psoriasis risk.

A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

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

The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.

A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.

Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

Trichophyton mentagrophytes genotype VII is a sexually transmitted fungus causing skin issues, mainly among men who have sex with men in Europe, and requires quick treatment.

A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.

A gene mutation causes monilethrix in a Chinese family.

Genetic variations affecting skin structure play a key role in severe acne.

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.