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A new DSG4 gene mutation causes hair defects in a young girl.

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

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

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

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

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

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

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

A gene mutation in mice causes permanent hair loss and skin issues.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

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

The hr gene is linked to hair loss in Valle del Belice sheep.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A mutation in the KRTHB5 gene causes hair and nail issues.

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

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

The LMNA mutation affects skin structure even in asymptomatic carriers.