Abstract
The Role of Genetics Mutations in Genes PORCN, TWIST2, HCCS in Goltz Syndrome
Highlights
Generalizations of Goltz SyndromeGoltz syndrome (focal skin hypoplasia) is a genetic disorder that primarily affects the skin, skeletal system, eyes and face
Goltz syndrome is a genetic disorder that primarily affects the skin, skeletal system, eyes and face
Goltz syndrome is caused by mutation genes PORCN, TWIST2, HCCS
Summary
Goltz syndrome (focal skin hypoplasia) is a genetic disorder that primarily affects the skin, skeletal system, eyes and face. About 90 percent of people with Goltz syndrome are women, and men with symptoms usually have fewer symptoms and symptoms than women. It should be noted that some people with Goltz syndrome have intellectual disabilities [1] (Figure 1)
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