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A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

Woman has discoid lupus, frontal fibrosing, and androgenetic alopecia.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

Troglitazone increases subcutaneous fat in lipodystrophy patients.

Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.

A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Mutations in the DSG4 gene cause specific hair and scalp issues.

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

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

ECCL should be considered in patients with specific skin and eye lesions.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

A rare scalp condition caused scarring hair loss in a woman, improved slightly with treatment.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Dermoscopy helps diagnose rare GLPLS in males.

A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.