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A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

New mutations in the hairless gene may cause hair loss and affect bone development.

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

Mutations in the LSS gene cause a rare type of hereditary hair loss.

The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

Certain IL-18 gene variations may increase the risk of alopecia areata.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Two mouse mutations cause similar hair loss despite different skin changes.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

A rare gene variant causes hair and nail issues in a family.

A woman's mature cystic teratoma caused her virilization by producing testosterone.

A new genetic mutation was found causing hair and eye issues in a boy.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

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

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

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

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.