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A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

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

Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.

KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.

The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

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

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

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.

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 new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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

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

Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.