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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

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

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

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

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

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

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

CT60 polymorphism might increase the risk of Alopecia Areata.

Genetic marker rs12558842 strongly linked to male hair loss.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

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

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

A mutation in the KRTHB5 gene causes hair and nail issues.

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

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

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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

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

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

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

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

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

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