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A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

CARASIL can cause different symptoms even with the same genetic mutation.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A specific gene variant may increase the risk of developing Alopecia Areata.

Mutations in the SNRPE gene cause hereditary hair loss.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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

Researchers found a new mutation causing total hair loss from birth.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

A unique gene mutation was found in a family with monilethrix.

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

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

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

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

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

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

The condition is linked to chromosome 12, but no mutations were found in the known genes.