一个具有关节过度活动型埃勒斯-当洛综合征临床特征的家族中的一种新型变异体，该变异体被证明是一种相关的重叠性疾病。
A novel variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a -related overlap disorder.
作者信息
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
机构信息
Centre de Référence des Syndromes d'Ehlers-Danlos Non Vasculaires Hôpital Raymond Poincaré Garches France.
INSERM U1179 Université Versailles Saint-Quentin-en-Yvelines Montigny-le-Bretonneux France.
出版信息
Clin Case Rep. 2021 Jun 26;9(9):e04128. doi: 10.1002/ccr3.4128. eCollection 2021 Sep.
-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.
相关重叠障碍是一种尚未被视为2017年埃勒斯-当洛斯综合征（EDS）分类一部分的病症。然而，对于任何患有关节过度活动型EDS的患者，都应将其作为一种替代诊断进行调查。这有助于提供适当的遗传咨询。
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