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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

The hr gene is crucial for skin and hair health, with mutations causing hair disorders.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.

Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.

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

A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Lhx2 helps retinal cells respond to signals for eye development.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.

Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.

A girl had two rare hair conditions that helped understand their overlap.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

SLHA can be hard to diagnose and needs teamwork between specialists.

Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.

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

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Finasteride use can cause depression-like behavior in male rats.

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

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

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

Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.

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

The 2012 criteria are better for diagnosing atypical lupus cases.

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

New LSS gene variants help understand congenital hypotrichosis 14 better.