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A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

Combining ciclosporin and simvastatin can cause severe kidney damage.

Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.

A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.

A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

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

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

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

A unique gene mutation was found in a family with monilethrix.

Arginine converts to citrulline in hair follicles as proteins harden.

Monitor for early signs of azathioprine toxicity and check blood counts regularly.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.

A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Knuckle darkening can be an early sign of vitamin B12 deficiency.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.

A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.

Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.