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A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

Trichoscopy is a helpful tool for diagnosing Netherton syndrome.

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

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

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

The authors suggest standardizing how the heart's electrical axis is calculated to improve precision and consistency in ECG analysis.

DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.

Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

A new form of lipodystrophy in HIV patients causes neck fat buildup.

Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.

Clinicians should be aware of alternating thyroid conditions and their treatment.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.

Frog skin cells need the protein desmoplakin for proper development and cell layer formation.

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

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.

Hashimoto's thyroiditis can sometimes change to Graves' disease, so patients need careful monitoring.

Oxygen levels can drop during liver transplant if bypass pressures are too high, but other reasons should be checked first.

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

A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.