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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Detalles Bibliográficos
Autores principales: Yamaguchi, Tomomi, Hayashi, Shujiro, Nagai, So, Uchiyama, Akihiko, Motegi, Sei-Ichiro, Fujikawa, Tomomi, Takiguchi, Yuri, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196838/
https://www.ncbi.nlm.nih.gov/pubmed/37214418
http://dx.doi.org/10.3389/fgene.2023.1102101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196838/
https://www.ncbi.nlm.nih.gov/pubmed/37214418
http://dx.doi.org/10.3389/fgene.2023.1102101

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