Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder

No genetic basis is currently established that differentiates hypermobility spectrum disorders (HSD) from hypermobile Ehlers–Danlos syndrome (hEDS). Diagnosis is entirely based on clinical parameters with high overlap, leading to frequent misdiagnosis of these two phenotypes. This study presents a l...

Descripción completa

Detalles Bibliográficos
Autores principales: Alanis-Funes, Gerardo J., Lira-Albarrán, Saúl, Hernández-Pérez, Jesús, Garza-Elizondo, Mario A., Ortíz-López, Rocío, Elizondo, César V., Rojas-Martinez, Augusto, Chávez-Santoscoy, Rocío A., Rangel-Escareño, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319525/
https://www.ncbi.nlm.nih.gov/pubmed/35886052
http://dx.doi.org/10.3390/genes13071269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319525/
https://www.ncbi.nlm.nih.gov/pubmed/35886052
http://dx.doi.org/10.3390/genes13071269

Ejemplares similares