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; Eloisa Arbustini

doi:10.1111/ijd.12588

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, Eloisa Arbustini

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	1362-1364
Number of pages	3
Journal	International Journal of Dermatology
Volume	53
Issue number	11
DOIs	https://doi.org/10.1111/ijd.12588
Publication status	Published - Nov 1 2014

ASJC Scopus subject areas

Dermatology
Medicine(all)

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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.",

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AU - Grasso, Maurizia

AU - Arbustini, Eloisa

PY - 2014/11/1

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

Abstract

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