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

Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.

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

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

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

A specific gene mutation causes different hair defects in Indian monilethrix families.

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.

A mutation in the Sgkl gene causes defective hair growth in mice.

A defective gene causes hair loss and taste insensitivity in BTBR mice.

Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

A new DSG4 gene mutation causes hair defects in a young girl.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.