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Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

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

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

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

Keratinocyte gene expression is controlled by multiple modules with specific binding sites.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

Human adrenals and gonads have a unique enzyme for steroid hormone production.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.

New genes and pathways are important for testosterone production and male sexual development.

Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.

Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.

Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.

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

The ID2 gene can help distinguish between sensitizers and irritants in skin cells.

TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.

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Hair loss risk is influenced by multiple genes.

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

The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.

Male infertility and genitourinary birth defects are often linked to genetic issues.

The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.