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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

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.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

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.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

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

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A woman's mature cystic teratoma caused her virilization by producing testosterone.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

A girl had rickets due to a gene mutation affecting vitamin D response.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

A new genetic mutation was found causing hair and eye issues in a boy.

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

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

A genetic variant in the KRT25 gene causes tightly curled hair.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.