Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
A case of familial glomuvenous malformation with report of a novel genetic mutation.
Esteves M et al.
International Journal of Dermatology, 2020
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P et al.
Molecular Syndromology, 2013
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Brouillard P et al.
Journal of Medical Genetics, 2005
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Brouillard P et al.
American Journal of Human Genetics, 2002
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