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A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

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

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

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

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

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

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

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

A mutation in the KRTHB5 gene causes hair and nail issues.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

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

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

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

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

A specific gene variant may increase the risk of developing Alopecia Areata.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

Certain genetic markers may increase or decrease prostate cancer risk.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

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 heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.

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