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A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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Children are at risk of health issues from exposure to platinum group elements from car exhausts.

Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.

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A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A girl had rickets due to a gene mutation affecting vitamin D response.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

A specific mutation in PA-PLA1α causes abnormal hair growth.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Higher BPA levels may be linked to idiopathic hyperandrogenemia in women.

IMG-007 helps regrow hair and reduce scalp inflammation in severe alopecia areata.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

A patient developed a blister at the injection site after hepatitis C treatment.

SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A specific genetic marker is linked to male pattern baldness in Han Chinese men.

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A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.