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The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

Lack of functional CYLD in mice leads to early aging and cancer.

Mutations in the Sgk3 gene cause fuzzy hair in mice.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

A gene variation is linked to hair thickness in Asians.

Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.

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

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

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

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

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

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

Defective nuclear transport may cause gene expression changes in Progeria.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

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

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

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.