Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. FBN1, FBN2, and FBN3 encode the human fibrillins and mutations in FBN1 and FBN2 cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently...

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Detalles Bibliográficos
Autores principales: Genovesi, Maria Luce, Torres, Barbara, Goldoni, Marina, Salvo, Eliana, Cesario, Claudia, Majolo, Massimo, Mazza, Tommaso, Piscopo, Carmelo, Bernardini, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9334770/
https://www.ncbi.nlm.nih.gov/pubmed/35910214
http://dx.doi.org/10.3389/fgene.2022.924362

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