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Case Reports
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
- Riccardo G Borroni, Sara Grassi, Marta Diegoli, Maurizia Grasso, and Eloisa Arbustini.
- Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico "San Matteo", Pavia, Italy.
- Int. J. Dermatol. 2014 Nov 1; 53 (11): 1362-4.
AbstractGlomuvenous 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.
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