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Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

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

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

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

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

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

A specific gene mutation causes congenital hair loss.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

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

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

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

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

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

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

New genetic mutations causing hair loss were found in a Chinese family.

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

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

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