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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.

KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

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

AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.

ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.

Three genes linked to the development of trichilemmal cysts were found.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

CXXC5 can both suppress and promote cancer, making it a complex target for treatment.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

The KRTAP22-2 gene in sheep does not significantly affect wool traits.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.

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

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.