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Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

Studying rare genetic disorders can help us understand and treat common diseases better.

Genes and hormones cause hair loss, with four genes contributing equally.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

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

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

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.

Epidermal nevi are skin cell clusters linked to various syndromes.

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

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.

A new gene variant causes glucocorticoid resistance in a mother and son.

New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.

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

A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Scientists found a gene in mice that causes early hearing loss.

The research suggests that autophagy-related genes might play a role in causing alopecia areata.

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

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

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 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

Surgery on a baby with a skin disorder improved eyelid position and eye health.

Premature graying of hair may suggest health issues and currently lacks effective treatments.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Toxic Epidermal Necrolysis is a rare, serious skin condition that can affect anyone, is more common in women, and may be linked to genetics, with a 20% mortality rate mainly due to sepsis.

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

P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.

PFS might be a delusional disorder with potential to become mass psychogenic illness.