Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature

The Ehlers–Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is caused by biallelic variants in the adipocyte enhancer b...

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Detalhes bibliográficos
Main Authors: Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho
Formato: Artigo
Idioma:English
Publicado em: Frontiers Media S.A. 2023-05-01
Colecção:Frontiers in Genetics
Assuntos:
Ehlers-Danlos Syndrome
classical-like EDS type 2 (clEDS2)
adipocyte enhancer binding protein 1 (AEBP1)
aortic carboxypeptidase-like protein (ACLP)
autosomal recessive
connective tissue disorders
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2023.1102101/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1102101/full

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