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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.

The 14-3-3σ gene is essential for preventing hair loss.

Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.

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

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

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

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

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

CNVs influence hair length in Tianzhu white yaks.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

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

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.

The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

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

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

Ptprq has multiple forms that change during inner ear development.

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Hoxc13 is important for hair and tongue development by controlling hair keratin genes.

PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.

The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.