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Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.

A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.

Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.

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

The review helps improve diagnosis and treatment of challenging hair disorders.

VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.

Trichoscopy is a helpful tool for diagnosing Netherton syndrome.

The man's rash, hair loss, and vision issues were due to syphilis, not CMV.

iPSCs help understand and treat neurodevelopmental disorders.

A new gene mutation causes insulin resistance in a girl and her mother.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

A specific group of skin stem cells was found to help maintain hair follicle cells.

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

Disitamab vedotin and gemcitabine effectively treated bladder cancer without major side effects.

The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.

Early diagnosis and teamwork are crucial for managing ILVASC effectively.

Proactive monitoring and management are essential to maximize the benefits of Trastuzumab Deruxtecan while minimizing serious side effects.

The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.

The European Society of Cutaneous Lupus Erythematosus created a questionnaire to standardize patient assessment and improve care for cutaneous lupus.

Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.