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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

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

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

Two new gene mutations cause a rare hair disorder.

A patient with lupus experienced a condition where their immune cells became overactive.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.

WYE-130600 may cause skin thickening and irritation.

Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.

Two sisters have rare hair disorders causing short, fragile, kinky hair.

Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.

A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

Unique fat cells near fibrotic areas contribute to systemic sclerosis progression.

Syphilis should be considered if PLEVA-like symptoms don't improve with treatment.

An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.

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

A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

A gene mutation in mice causes severe skin disorder similar to a human condition.

KID syndrome should be reclassified as an ectodermal dysplasia.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.