Search

everythinglearnresearchcommunity

for

Search:↓

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.

A specific gene mutation causes congenital hair loss.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

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

Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.

Minoxidil might cause eye issues, so early detection is important.

Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."

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

Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Mutations in the KRT85 gene cause hair and nail problems.

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

A girl had rickets due to a gene mutation affecting vitamin D response.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

Polarized microscopy helps identify hair irregularities in genetic disorders.

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

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.