A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Clin Case Rep
; 9(9): e04128, 2021 Sep.
Article
em En
| MEDLINE
| ID: mdl-34484741
ABSTRACT
COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2021
Tipo de documento:
Article