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Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN).

International journal of dermatology - 1 Feb 2023

Couselo-Rodríguez Carmen, Batalla Ana, González-Sixto Beatriz, Oro-Ayude Marcos, Álvarez-Álvarez Carlos, Loidi Lourdes, Flórez Ángeles

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PMID: 35506490
DOI: 10.1111/ijd.16246

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Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN).PMID 35506490Read ↗

[Glomulin mutations in glomuvenous malformation (glomangioma)].Semantic proximity Read ↗

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.Semantic proximity Read ↗

Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> MutationSemantic proximity Read ↗

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.Semantic proximity Read ↗

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").Semantic proximity Read ↗

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

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Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.Semantic proximity Read ↗

A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.Semantic proximity Read ↗

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