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Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.

Celiac disease can cause skin issues, and a gluten-free diet can help improve them.

A girl had rickets due to a gene mutation affecting vitamin D response.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

CDP is crucial for lung and hair follicle cell development.

A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.

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

Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.

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

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

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

A child with a rare vitamin D-resistant condition improved with treatment.

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

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

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

A vitamin D receptor mutation causes rickets and affects immune responses.

A gluten-free diet significantly improves skin and health issues in people with dermatitis herpetiformis, a skin condition linked to celiac disease.

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

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.