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

A vitamin D receptor mutation causes rickets and affects immune responses.

A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.

Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

A genetic variant in the KRT25 gene causes tightly curled hair.

Certain genes may be linked to autoimmune conditions in people with alopecia areata.

Some hair loss disorders are caused by genetic mutations affecting hair growth.

A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.

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

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A genetic variant linked to hair thinning in Japanese women was found.

Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.

Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.

Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

CD2 might be a new treatment target for patchy alopecia areata.

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

A truncated protein linked to breast cancer may change cell adhesion.

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.