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Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.

The scraggly mutation causes hair loss and skin defects in mice.

A specific gene mutation causes sparse, brittle hair in a family.

A gene mutation causes monilethrix in a Chinese family.

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

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

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

A specific gene mutation causes long hair in Angora rabbits.

A specific gene mutation causes severe skin and nail issues and hair loss.

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

Somatic BHD mutations are rare in Japanese renal tumors.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

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

A new gene mutation linked to a skin condition was found in a Spanish family.

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

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

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

A specific gene mutation causes woolly hair and hair loss.

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

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

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.