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An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

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

An American Bully with a genetic skin condition improved significantly with specific topical treatments.

Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

Six genetic conditions are often linked to complete scalp hair loss in children.

A mother and daughter have a rare genetic hair loss disorder with no effective treatment.

The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.

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

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

New genetic mutations linked to rare skin disorders were found in three newborns.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

The man has a genetic skin condition called pachyonychia congenita.

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.