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A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

K16 can partially replace K14 but causes hair loss and skin issues.

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

A specific gene mutation causes long hair in Angora rabbits.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

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

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

Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.

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

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

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

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

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

MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.

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