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A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

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

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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

Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

New genetic mutations linked to rare skin disorders were found in three newborns.

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

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

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Reduced matriptase activity causes skin and hair issues in both humans and mice.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

New genetic mutations causing hair loss were found in a Chinese family.

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

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

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

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

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

Arab APS1 patients have unique and recurrent AIRE gene mutations.

ATP-sensitive potassium channels are important for hair growth.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.