Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations
Author:
Affiliation:
1. Department of Dermatology; University Hospital Complex of Ferrol; Ferrol Spain
2. Department of Pathology; University Hospital Complex of Ferrol; Ferrol Spain
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.14312/fullpdf
Reference6 articles.
1. Congenital plaque-type glomuvenous malformation: 11 years of follow-up and response to treatment with the combined pulsed-dye and neodymium:yttrium-aluminum-garnet laser;Vargas-Navia;Actas Dermosifiliogr,2017
2. Genotypes and phenotypes of 162 families with a glomulin mutation;Brouillard;Mol Syndromol,2013
3. Multiple glomus tumor of the pseudocavernous hemangioma type; report of case manifesting a dominant inheritance pattern;Gorlin;Arch Dermatol,1960
4. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”);Brouillard;Am J Hum Genet,2002
5. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations;Amyere;Am J Hum Genet,2013
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