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The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

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

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

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.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.

New treatments targeting specific genes show promise for treating keratin disorders.

Chemokine signaling is important for hair development.

Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.

5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

Lack of cystatin M/E causes thin hair and dry skin.

New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.

A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.