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

The HPV type 11 region activates hair-specific gene expression in mice.

The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

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

A new type of pachyonychia congenita may exist, caused by a different keratin mutation.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.

Keratin 17 is important for skin development and may help define skin cell types.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

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

Robertsonian translocation can cause recurrent miscarriages.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

Longer CAG repeats in gene linked to more severe hair loss in females.

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

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

PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.

Early-onset hair loss is linked to Parkinson's disease and decreased fertility.