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A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

PAS III can cause multiple autoimmune diseases with noticeable skin issues.

Netherton syndrome causes specific skin and hair changes that help in early diagnosis.

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

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

Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.

Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

SLE patients need careful diagnosis to distinguish infections from disease flares for proper treatment.

WYE-130600 may cause skin thickening and irritation.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

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

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

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

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

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.

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.

Epidermal nevi are skin cell clusters linked to various syndromes.

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.