Open AccessA novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Author(s) -
Foy Malika,
De Mazancourt Philippe,
Métay Corinne,
Carlier Robert,
Allamand Valérie,
Gartioux Corine,
Gillas Fabrice,
Miri Nawel,
Jobic Valérie,
Mekki Ahmed,
Richard Pascale,
Michot Caroline,
Benistan Karelle
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4128
Subject(s) - ehlers–danlos syndrome , medicine , congenital disorder , genetic disorder , joint hypermobility , dermatology , pathology , surgery , psychiatry , disease
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.