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

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Hexahydrobenzo[f]quinolines are effective at blocking the enzyme 5α-reductase.

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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.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

Metabolic processes and key genes like FGF5, FGFR1, and RRAS significantly affect hair follicle growth in Inner Mongolian Cashmere goats.

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The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.

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

Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.

The new formulation greatly improved quercetin absorption in rats.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Using human recombinant hyaluronidase in donor strip harvesting may improve the procedure.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

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