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Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

Trichohyalin in hair can trigger immune attacks in alopecia areata.

Certain genetic variants increase the risk of aggressive prostate cancer.

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

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

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

MCHR2 gene duplications may be linked to alopecia areata.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

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

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

No significant link was found between the studied genes and female hair loss in the Polish population.

Keratin mutations cause skin diseases and could lead to new treatments.

SQSTM1 gene issues may increase the risk of alopecia areata.

A rare gene variant causes hair and nail issues in a family.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

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

Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

Deleting TNFα gene reduces skin cancer risk in certain mice.

People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.