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TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

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

Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.

Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.

A new DSG4 gene mutation causes hair defects in a young girl.

FOXN1 gene variants cause low T cells and immune issues from birth.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

New mutations in the DSG4 gene cause a rare hair condition.

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

TG5 helps maintain hair follicle health, while TG3 aids in hair shaft development.

CMV infection increases the risk of GvHD after bone marrow transplants.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.