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.
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations / Borroni, Riccardo G.; Grassi, Sara; Diegoli, Marta; Grasso, Maurizia; Arbustini, Eloisa. - In: INTERNATIONAL JOURNAL OF DERMATOLOGY. - ISSN 0011-9059. - 53:11(2014), pp. 1362-1364. [10.1111/ijd.12588]
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations
Grassi, Sara;
2014
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
