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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.

New genetic mutations causing hair loss were found in a Chinese family.

Current drug safety systems fail to detect long-term side effects, leading to preventable health issues.

New mutations in the DSG4 gene cause a rare hair condition.

A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

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

LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.

Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.

The patient quickly recovered from hair loss caused by DRESS syndrome using topical minoxidil.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.

Post-finasteride syndrome's existence is uncertain; more research needed.

Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.

Folate receptor β helps suppress the immune system in macrophages and affects cancer growth and hair health.

A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Zebrafish help understand genetic causes of skin pigment disorders like albinism.

A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.

SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.

The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Post-finasteride syndrome causes various symptoms in men using finasteride, with no known cure.

Esrp1 is important for skin health by helping form and maintain the skin barrier.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.