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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

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

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

A specific genetic deletion in goats affects cashmere yield and thickness.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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

FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

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

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

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

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.

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

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.

The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.

A gene mutation causes curly hair and hair loss in rats.

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

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.