Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Introduction: AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin hyperextensibility, joint hypermobility, and ea...

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Detalles Bibliográficos
Autores principales: Angwin, Chloe, Ghali, Neeti, van Dijk, Fleur Stephanie
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/PMC10151747/
https://www.ncbi.nlm.nih.gov/pubmed/37144134
http://dx.doi.org/10.3389/fgene.2023.1148224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151747/
https://www.ncbi.nlm.nih.gov/pubmed/37144134
http://dx.doi.org/10.3389/fgene.2023.1148224

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