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

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A man's breast enlargement from low-dose finasteride for hair loss didn't go away, even with treatment, and might be more common than reported.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

Genetic mutations can affect female sexual development, requiring personalized medical care.

A new gene mutation linked to a skin condition was found in a Spanish family.

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

An American Bully with a genetic skin condition improved significantly with specific topical treatments.

An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.

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

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.

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

Botanical extracts can help treat hair loss in people with certain genetic conditions.

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

The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.

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

Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Hair loss in certain mice is linked to changes in keratin-related genes.

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

Woolly hair is a rare genetic condition with no effective treatments.

Two siblings have a rare genetic condition causing curly, coarse hair.

New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

A rare skin condition causes red and dark patches on the face and limbs.