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

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A specific gene mutation causes a severe skin disorder in a family.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

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

Certain gene combinations improve cashmere quality and production in Liaoning goats.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

The rs1128977 gene variant may affect cholesterol and body measurements.

The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.

Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.

Some people have a genetic variation that makes them less effective at breaking down drugs.

The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

The G allele of IFITM3 rs12252 is linked to more severe COVID-19.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The ACE1 gene variant doesn't affect long-COVID symptoms.

A specific genetic marker is linked to male pattern baldness in Han Chinese men.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.