Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modi...

Descripción completa

Detalles Bibliográficos
Autores principales: Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Pezzaioli, Letizia, Formenti, Anna Maria, Chiarelli, Nicola, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410021/
https://www.ncbi.nlm.nih.gov/pubmed/30759870
http://dx.doi.org/10.3390/genes10020135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410021/
https://www.ncbi.nlm.nih.gov/pubmed/30759870
http://dx.doi.org/10.3390/genes10020135

Ejemplares similares