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Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

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

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

Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.

Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

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

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.

A specific genetic variation affects wool quality in sheep.

Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.

Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.

A specific gene mutation causes complete hair loss without other health issues.

No link found between aromatase gene and female hair loss.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.

Deleting part of a gene in mice causes wavy hair and high pup loss.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.

HSD11b1 affects skin nerves and increases non-histaminergic itch.

Different forms of finasteride dissolve and remain stable differently, affecting capsule quality.

A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.

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