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

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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Bibliographic Details
Main Authors: Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
Bardet–Biedl syndrome
FBN3
fibrillinopathies
SNP-array
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.924362/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.924362/full

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