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

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

The twins' condition is unique and doesn't match any known syndromes.

Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.

New genetic mutations linked to rare skin disorders were found in three newborns.

The patient responded well to treatment with no disease progression.

Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

Recognizing CVG can help diagnose systemic amyloidosis early.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.

Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.

A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.

A baby with KID syndrome died from infections and organ failure at 18 months old.

A specific gene mutation causes Olmsted syndrome.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

Graham-Little syndrome causes scarring hair loss and skin bumps.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.

Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.