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The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Cathepsin L deficiency causes hair and skin issues in mice.

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

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

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

A rare EGFR mutation in newborns leads to severe health issues and early death.

A mutation in the Sgkl gene causes defective hair growth in mice.

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

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

A new gene mutation linked to a skin condition was found in a Spanish family.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

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

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

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

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