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

Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.

A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

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

A gene mutation in mice causes skin defects and early death.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.

Using too much minoxidil foam can cause a rare movement disorder with facial twitching, but symptoms go away when the correct dose is used.

CARASIL can cause different symptoms even with the same genetic mutation.

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

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.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.

Defective protein folding due to a mutation is key in ANE syndrome.

Mice with CBS deficiency are healthier on a low-methionine diet.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.

A new DSG4 gene mutation causes hair defects in a young girl.

A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.

Rushton's hyaline bodies form from hair keratin and blood substances.

Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.

Mild changes in bone markers relate to TCM syndromes in CKD-MBD patients.