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

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

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

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

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A new gene mutation linked to a skin condition was found in a Spanish family.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

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

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

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.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A gene mutation causes monilethrix in a Chinese family.

Two gene variants cause white spots in cattle.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

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

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

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