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The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

People with Down's syndrome often have more skin problems due to a weak immune system.

TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

People with Down syndrome often have skin issues and need regular check-ups for early treatment.

Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.

A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.

Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.

Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.

The condition might be caused by genetic changes after birth.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

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

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.