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

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

The ACE1 gene variant doesn't affect long-COVID symptoms.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

The HCR gene contributes to psoriasis risk.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

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

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

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

Mutations in the KRT16 gene can cause skin and nail disorders.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A specific gene change in APCDD1 increases the risk of hair loss.

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

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

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

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

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

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

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.