Associated Papers
Pathogenic Glomulin Gene Variant in a Patient with Idiopathic Pulmonary Arterial Hypertension: A Novel Association Case Report.
Dimeas IE et al.
Reports (mdpi), 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc2.xlsx › Table_S1
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-escaping_mutations
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.
Serio VB et al.
Journal of Clinical Medicine, 2022
A case of familial glomuvenous malformation with report of a novel genetic mutation.
Esteves M et al.
International Journal of Dermatology, 2020
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.
Borroni RG et al.
Journal of Cutaneous Pathology, 2014
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P et al.
Molecular Syndromology, 2013
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Brouillard P et al.
American Journal of Human Genetics, 2002
Select a paper to view details