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

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

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

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

A new gene mutation causes insulin resistance in a girl and her mother.

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

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.

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

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

A specific gene mutation causes a severe skin disorder in a family.

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

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

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

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

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

Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.

Increasing SSAT makes skin more prone to cancer.

The gene Prss53 affects hair shape and bone development in rabbits.

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

SASH1 gene mutations are linked to various inherited skin pigmentation disorders.

A unique gene mutation was found in a family with monilethrix.

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

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

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

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.