HIGHLIGHTS
- Who: ( and colleagues from the Centromere , have published the research work: Genetic diagnosis of the Ehlers-Danlos syndromes, in the Journal: (JOURNAL)
- Future: Interna- tional sharing of exome or genome variant data should assist in the identification of novel EDS-associated genes in the future.
SUMMARY
The EDS group of disorders can be divided into "monogenic EDS types" caused by pathogenic variants in specific genes, and hypermobile EDS (hEDS) with yet undefined molecular cause. Making the correct clinical diagnosis in individuals with "syndromic hypermo- Johannes Zschocke et_al, Genetic diagnosis of the . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.