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Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

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

The AMHR2-482A>G gene change is linked to higher PCOS risk.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.

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

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

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

Researchers found a gene mutation responsible for a rare hair loss condition.

HLD10 can include increased body hair and Mongolian spots.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Men with a family history of PCOS have lower sperm concentration and more hair loss.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

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

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

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

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

The four patients have a unique type of ichthyosis affecting hair follicles.