Loss-of-Function Variants in <i>EFEMP1</i> Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Loss-of-Function Variants in <i>EFEMP1</i> Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculos...

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Bibliographic Details
Main Authors: Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Yilmaz Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Sofie Symoens, Bert Callewaert
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Genes
Subjects:
<i>FBLN3</i>
<i>EFEMP1</i>
fibulin-3
cutis laxa
elastic fiber
extracellular matrix
Online Access:https://www.mdpi.com/2073-4425/12/4/510

Internet

https://www.mdpi.com/2073-4425/12/4/510

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