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Articles by Eric Legius
Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric Cases
1 Introduction Congenital smooth muscle hamartoma (CSMH) is a hamartomatous proliferation of the smooth muscle cells of the arrector pili muscle, classically congenital and accompanied by hypertrichosis lanuginosa. Becker's nevus (BN) is similarly a hamartomatous proliferation, usually acquired (with onset in childhood or adolescence) and characterized by hyperproliferation of smooth muscle cells, hyperpigmentation, and localized hypertrichosis of terminal hair [1].
Legius Syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration
Keywords SPRED1 Legius syndrome membrane localization palmitoylation neurodegeneration spermidine autophagy Introduction Germline loss-of-function mutations in the SPRED1 (Sprouty-related protein with an EVH1 domain-1) gene have been identified in patients meeting NIH clinical diagnostic criteria for neurofibromatosis type 1 (NF1) in whom NF1 mutations could not be identified; SPRED1 mutations represent at least 2% of pathogenic mutations in patients clinically diagnosed with NF1 (1-3).
In memory of Ludwine Messiaen, Ph.D. (1956-2024)
Corresponding Author Elfride De Baere Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium Department of Biomolecular Medicine, Ghent University, Ghent, Belgium Correspondence Elfride De Baere, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. Email: elfride.debaere@ugent.be Search for more papers by this author
Capillary malformations in a child caused by a novel HRAS mutation
CONFLICT OF INTEREST STATEMENT All authors consent for publication and have no conflicts of interest. REFERENCES 1, , , et al. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021; 108(1): 8-15. 2, , . ISSVA classification of vascular anomalies and molecular biology. Int J Mol Sci. 2022; 23(4): 2358. 3 International Society for the Study of Vascular Anomalies.
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
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SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila - Nature Communications
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
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