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A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Mutations in the KRT85 gene cause hair and nail problems.

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

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

A specific gene mutation causes congenital hair loss.

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

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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

Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

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

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

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

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

Different enzymes are active in different parts of developing mouse organs.

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

The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

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

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

New mutations in the hairless gene may cause hair loss and affect bone development.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.