Glomuvenous malformations (GVMs, OMIM 138000) are hamartomas presenting in childhood as multiple, bluish, soft papules and nodules that tend to grow slowly in size and number with age. They are caused by autosomal dominant mutations in glomulin (GLMN) gene penetrance varies from 80% at 20 to about 100% at age 30 years. We report on the c.395-1G>C mutation of GLMN gene in two siblings showing variable penetrance. © 2014 The International Society of Dermatology.
|Titolo:||Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations|
|Data di pubblicazione:||2014|
|Appare nelle tipologie:||1.1 Articolo in rivista|