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The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

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

A specific gene mutation causes different hair defects in Indian monilethrix families.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Specific mutations in a receptor cause facial abnormalities and hair loss.

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

Specific keratin gene mutations can cause monilethrix.

XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

Mutations in specific genes cause different types of ectodermal dysplasias.

Mutations in the HOXC13 gene cause hair and nail development issues.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

A specific gene change in APCDD1 increases the risk of hair loss.

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

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

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

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.