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A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

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

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

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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

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

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Researchers found a new mutation causing total hair loss from birth.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Defective protein folding due to a mutation is key in ANE syndrome.

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

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

A specific gene mutation causes varying hair loss severity in a Pakistani family.

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

Mutations in the SNRPE gene cause hereditary hair loss.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

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

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

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

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

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

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.