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A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A specific gene mutation causes congenital hair loss.

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

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

REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.

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

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

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

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

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

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

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

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Mutations in the SNRPE gene cause hereditary hair loss.

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

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

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

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

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

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

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

A specific gene mutation causes complete hair loss in an Irish Traveller family.

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

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