Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% of mcEDS-CHST14 patients...

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Detalles Bibliográficos
Autores principales: Kawakita, Masayuki, Iwasaki, Satoshi, Moteki, Hideaki, Nishio, Shin-ya, Kosho, Tomoki, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379827/
https://www.ncbi.nlm.nih.gov/pubmed/37510254
http://dx.doi.org/10.3390/genes14071350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379827/
https://www.ncbi.nlm.nih.gov/pubmed/37510254
http://dx.doi.org/10.3390/genes14071350

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