Congenital Defects in a Patient Carrying a Novel Homozygous <i>AEBP1</i> Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

Congenital Defects in a Patient Carrying a Novel Homozygous <i>AEBP1</i> Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

In 2018, a new clinical subtype, caused by biallelic variants in the <i>AEBP1</i> gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers–Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has no...

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Bibliographic Details
Main Authors: Niccolò Di Giosaffatte, Alessandro Ferraris, Federica Gaudioso, Valentina Lodato, Emanuele Savino, Claudia Celletti, Filippo Camerota, Simone Bargiacchi, Luigi Laino, Silvia Majore, Irene Bottillo, Paola Grammatico
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
Ehlers–Danlos Syndrome
<i>AEBP1</i>
ACLP
clEDS2
multiple congenital anomalies
TGF-β pathway
Online Access:https://www.mdpi.com/2073-4425/13/12/2358

Internet

https://www.mdpi.com/2073-4425/13/12/2358

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