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

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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.

Original languageEnglish
Pages (from-to)1362-1364
Number of pages3
JournalInternational Journal of Dermatology
Volume53
Issue number11
DOIs
Publication statusPublished - Nov 1 2014

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ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

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