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

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

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

HLD10 can include increased body hair and Mongolian spots.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

FGF13 gene changes cause excessive hair growth in a rare condition.

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

Mutations in the HOXC13 gene cause hair and nail development issues.

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

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.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

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

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

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

KRT72 gene helps form hair.

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

Inherited color dilution in rabbits is linked to DNA methylation changes.

The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.

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

Two new gene mutations cause a rare hair disorder.