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The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.

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

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Certain genetic markers may increase or decrease prostate cancer risk.

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

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

The LMNA mutation affects skin structure even in asymptomatic carriers.

Researchers found a non-functional sheep keratin gene due to mutations.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

A new mutation in mice causes crooked whiskers and messy hair.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

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

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A specific gene mutation causes sparse, brittle hair in a family.

A specific gene mutation causes congenital hair loss.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

Injecting specific oligonucleotides can change hair growth and structure by altering a 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.

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

A gene mutation in mice causes permanent hair loss and skin issues.

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

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

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.