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Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

CT60 polymorphism might increase the risk of Alopecia Areata.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

Defective protein folding due to a mutation is key in ANE syndrome.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

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

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

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

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

FGF13 gene changes cause excessive hair growth in a rare condition.

Specific mutations in a receptor cause facial abnormalities and hair loss.

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

The gene Prss53 affects hair shape and bone development in rabbits.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A new gene variant causes curly coats in some dog breeds.

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

5% topical minoxidil improves hair density and quality in monilethrix patients.

A KRT32 gene variant causes loose anagen hair syndrome.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.