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A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

A child with a rare vitamin D-resistant condition improved with treatment.

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.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Biotin supplements significantly improved a young girl's uncombable hair.

Lack of cystatin M/E causes thin hair and dry skin.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

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

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

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

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Some women with PCOS have rare genetic variants linked to the condition.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

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