Borroni Riccardo G, Grassi Sara, Diegoli Marta, Grasso Maurizia, Arbustini Eloisa
Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico "San Matteo", Pavia, Italy.
Int J Dermatol. 2014 Nov;53(11):1362-4. doi: 10.1111/ijd.12588. Epub 2014 Jun 25.
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.
静脉球瘤样畸形（GVMs，OMIM 138000）是一种错构瘤，在儿童期表现为多个蓝色的柔软丘疹和结节，其大小和数量往往会随着年龄的增长而缓慢增加。它们是由球瘤蛋白（GLMN）基因的常染色体显性突变引起的；外显率在20岁时为80%，在30岁时约为100%。我们报告了两名表现出不同外显率的兄弟姐妹中GLMN基因的c.395-1G>C突变。
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