Search

everythinglearnresearchcommunity

for

Search:↓

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A specific gene mutation causes severe skin and nail issues and hair loss.

Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.

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

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

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

Certain genetic variants in keratins increase the risk of tooth decay.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

Some young Angus cattle had skin problems due to not enough vitamin A, which got better after they were given more vitamin A.

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

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

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

Lack of certain fatty acids causes skin, immune, and fertility issues in mice.

Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.

Mutations in specific genes cause different types of ectodermal dysplasias.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.