Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Resta, Nicoletta;
2022-01-01
Abstract
Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
jmedgenet-2020-107595.pdf
accesso aperto
Descrizione: articolo principale
Tipologia:
Documento in Versione Editoriale
Licenza:
Creative commons
Dimensione
747.15 kB
Formato
Adobe PDF
|
747.15 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
