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

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. COL1‐related overlap disor...

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Veröffentlicht in:	Clinical Case Reports 2021-09, Vol.9 (9), p.e04128-n/a
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Bone surgery Case Report Case Reports Classification Clinical Medicine COL1A1 Collagen connective tissue Constipation Dermatologi och venereologi Dermatology and Venereal Diseases Ehlers-Danlos Syndrome Fatigue Gastroesophageal reflux Genes Hernias hypermobile EDS joint laxity Klinisk medicin Life Sciences Medical and Health Sciences Medicin och hälsovetenskap Mutation Pain Patients Pulmonary arteries Scars
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Beschreibung
Zusammenfassung:	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. 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.
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.4128