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Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

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

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 specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

A rare gene variant causes hair and nail issues in a family.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

A gene mutation in mice causes skin defects and early death.

A new gene mutation is linked to monilethrix in the studied family.

Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

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

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

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

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

The type of tumor suppressor gene lost affects the behavior of skin cancer.

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

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

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

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