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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.

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

A specific gene variant may increase the risk of developing Alopecia Areata.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

A specific gene mutation causes long hair in Angora rabbits.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

A gene mutation in mice causes severe skin disorder similar to a human condition.

CARASIL can cause different symptoms even with the same genetic mutation.

A new mouse mutation causes skin and hair defects due to a gene change.

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

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

A unique gene mutation was found in a family with monilethrix.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

A KRT32 gene variant causes loose anagen hair syndrome.

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

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

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

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

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.

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