Expanding the Clinical and Mutational Spectrum of Recessive <i>AEBP1</i>-Related Classical-Like Ehlers-Danlos Syndrome

Expanding the Clinical and Mutational Spectrum of Recessive <i>AEBP1</i>-Related Classical-Like Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modi...

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Bibliographic Details
Main Authors: Marco Ritelli, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Maria Formenti, Nicola Chiarelli, Marina Colombi
Format: Article
Language:English
Published: MDPI AG 2019-02-01
Series:Genes
Subjects:
classical Ehlers-Danlos syndrome
classical-like Ehlers-Danlos syndrome type 2
<i>AEBP1</i>
aortic carboxypeptidase-like protein
differential diagnosis
high-frequency ultrasonography
reflectance confocal microscopy
Online Access:https://www.mdpi.com/2073-4425/10/2/135

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https://www.mdpi.com/2073-4425/10/2/135

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