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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.

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

Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.

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

IL-17C is important in inflammatory skin diseases and could be a target for treatment.

Collagen XVII is important for skin aging and wound healing.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

GPRC5D is linked to the formation of hair, nails, and certain tongue areas.

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

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

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A unique gene mutation was found in a family with monilethrix.

pCLCA2 protein may help maintain skin structure and function.

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

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

Type XVII collagen helps control skin cell growth and may have anti-aging effects.

CCC1 is essential for pH balance and normal cell function in plants.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

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

Researchers found a new mutation causing total hair loss from birth.

Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.