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A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Specific keratin gene mutations can cause monilethrix.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

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

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

A gene mutation causes monilethrix in a Chinese family.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

A specific mutation in PA-PLA1α causes abnormal hair growth.

New mutations in the DSG4 gene cause a rare hair condition.

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 specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Two children with lysinuric protein intolerance showed symptoms similar to lupus.

A new gene mutation causes a rare type of hair loss.

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

New genetic mutations causing hair loss were found in a Chinese family.

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

A specific gene mutation causes congenital hair loss.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

New LSS gene variants help understand congenital hypotrichosis 14 better.

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