A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1 -related overlap disorder.

Authors :: Foy M
De Mazancourt P
Métay C
Carlier R
Allamand V
Gartioux C
Gillas F
Miri N
Jobic V
Mekki A
Richard P
Michot C
Benistan K
Source :: Clinical case reports [Clin Case Rep] 2021 Jun 26; Vol. 9 (9), pp. e04128. Date of Electronic Publication: 2021 Jun 26 (Print Publication: 2021).
Publication Year :: 2021
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.<br />Competing Interests: The authors declare that they have no conflict of interests.<br /> (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

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