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

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

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

The LMNA mutation affects skin structure even in asymptomatic carriers.

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

A gene mutation in mice causes skin defects and early death.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

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

Jieduquyuziyin prescription helps treat SLE with atherosclerosis by improving cholesterol removal and reducing inflammation.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.

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

Iodine deficiency in lambs causes poor growth, less wool, and delayed sexual maturity.

Lack of certain fatty acids causes skin, immune, and fertility issues in mice.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

IL-1 receptor absence in mice leads to skin cysts and changes in immune response after UVB exposure.

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

Early diagnosis and treatment of iodine deficiency in buffalo calves is crucial for their healthy growth.

A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.

Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.

Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.

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

Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.