Details

Autor(en) / Beteiligte

• Borroni, Riccardo G.
• Grassi, Sara
• Diegoli, Marta
• Grasso, Maurizia
• Arbustini, Eloisa

Titel

Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations

Ist Teil von

• International journal of dermatology, 2014-11, Vol.53 (11), p.1362-1364

Ort / Verlag

England: Blackwell Publishing Ltd

Erscheinungsjahr

2014

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.