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Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

Mutations in the hairless gene cause a rare form of permanent hair loss.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.

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

Selenium deficiency caused symptoms in a child, which improved with selenium supplements.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

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

A new gene mutation is linked to monilethrix in the studied family.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

Not having enough cystatin M/E protein causes less hair growth and dry skin.

The rash on the infant indicated a serious underlying condition.

New treatments for immune disorders caused by FOXN1 deficiency are promising.

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

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.