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A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

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

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

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

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

Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

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

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

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.

New genetic mutations causing hair loss were found in a Chinese family.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

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

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

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

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

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

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

A mutation in the KRT25 gene causes woolly hair and hair loss.

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

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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