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A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

Nocturnal calcium infusions improved a boy's severe rickets without causing hair loss.

Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.

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

Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.

DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.

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

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

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

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

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

Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

Defects in certain proteins cause major heart abnormalities during early development.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Poor nutrition in young children causes skin and hair issues, highlighting the need for better nutrition education.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.

The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.

Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.