Search

everythinglearnresearchcommunity

for

Search:↓

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

Specific mutations in a receptor cause facial abnormalities and hair loss.

A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Ritlecitinib provides new treatment options for diverse alopecia areata patients.

Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.

An adult with Kawasaki disease experienced temporary heart failure but recovered without lasting heart damage.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.

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

When treating older patients with both heart valve disease and heart muscle disease, doctors should create personalized treatment plans that address both conditions.

Researchers created a model to understand heart aging, highlighting key genes and pathways, and suggesting miR-208a as a potential heart attack biomarker.

Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

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

Reduced matriptase activity causes skin and hair issues in both humans and mice.

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

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Alopecia areata may be linked to kidney issues, but more research is needed.

VHL disease can cause early paragangliomas, needing lifelong monitoring.

A rare EGFR mutation in newborns leads to severe health issues and early death.

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

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.