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Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.

Hairless gene not strongly linked to baldness.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.

The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.

With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

The treatment was ineffective in humans.

Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.

The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.

Fat cells are important for healthy skin, hair growth, and healing, and changes in these cells can affect skin conditions and aging.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

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

Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.

Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.

Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A gene called Gk5 controls lipid production in the skin and affects hair growth.

Activating TRPV3 channels stops hair growth by killing hair follicle cells.

Selective breeding caused the unique curly hair in Mangalitza pigs.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

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.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.