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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.

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

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Mutation in hairless gene may increase hair loss risk.

Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.

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

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.

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

Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.

A boy with a rare skin condition improved quickly after starting zinc supplements.

Leontopodium alpinum extract may help reduce hair shedding by keeping hair in the growth phase longer.

Astrotactin2 affects hair follicle orientation and skin cell polarity.

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

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

The EDAR gene mutation leads to thinner and more deformed hair shafts.

Removing part of the vitamin D receptor stops vitamin D from working properly.

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.

The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.

Fatty acid transport protein 4 is essential for skin and hair development.

Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.

Genes and hormones cause hair loss, with four genes contributing equally.

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.