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Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.

A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.

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

3βHSD2 is not useful for diagnosing PCOS.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

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

A girl had rickets due to a gene mutation affecting vitamin D response.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

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

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

The hr gene is linked to hair loss in Valle del Belice sheep.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.

Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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

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

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.