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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

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

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

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

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

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

A new gene mutation causes insulin resistance in a girl and her mother.

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

Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A unique gene mutation was found in a family with monilethrix.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

The FGF5 gene determines hair length in dogs.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Gefitinib treatment led to unexpected hair growth in two lung cancer patients.

Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

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

FTase and GGTase-I are essential for skin keratinocyte health.

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

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

A genetic marker linked to a type of hair loss was found in most patients studied.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.