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.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

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

Researchers found a gene mutation responsible for a rare hair loss condition.

Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.

Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

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

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

The RAS pathway affects hair growth differently in CFCS and CS.

A man's skin condition and poor diet led to a scurvy diagnosis.

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.

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

A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.

Cantú syndrome is caused by mutations in the ABCC9 gene.

A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.

Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

A rare skin cancer on a man's elbow was successfully treated with surgery, showing no recurrence after one year.