Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Vandersteen, AM; Weerakkody, RA; Parry, DA; Kanonidou, C; Toddie-Moore, DJ; Vandrovcova, J; Darlay, R; Santoyo-Lopez, J; Meynert, A; Kazkaz, H; Grahame, R; Cummings, C; Bartlett, M; Ghali, N; Brady, AF; Pope, FM; van Dijk, FS; Cordell, HJ; Aitman, TJ

Vandersteen, AM (通讯作者)，IWK Hlth Ctr, Maritime Med Genet Serv, Halifax, NS, Canada.;Vandersteen, AM (通讯作者)，Dalhousie Univ, Fac Med, Dept Pediat, Halifax, NS, Canada.;Vandersteen, AM; Aitman, TJ (通讯作者)，Univ Edinburgh, Inst Genet & Canc, Ctr Genom & Expt Med, Edinburgh, Scotland.

JOURNAL OF MEDICAL GENETICS, 2023; ():

Abstract

Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. ......

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