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The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

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

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

New genetic mutations causing hair loss were found in a Chinese family.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

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

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.