000075698 001__ 75698
000075698 005__ 20200117221633.0
000075698 0247_ $$2doi$$a10.1038/s41576-018-0031-0
000075698 0248_ $$2sideral$$a107133
000075698 037__ $$aART-2018-107133
000075698 041__ $$aeng
000075698 100__ $$aKline, A.D.
000075698 245__ $$aDiagnosis and management of Cornelia de Lange syndrome: first international consensus statement
000075698 260__ $$c2018
000075698 5060_ $$aAccess copy available to the general public$$fUnrestricted
000075698 5203_ $$aCornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
000075698 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B20$$9info:eu-repo/grantAgreement/ES/FIS/PI12-01318$$9info:eu-repo/grantAgreement/ES/FIS/PI15-0707
000075698 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000075698 590__ $$a43.704$$b2018
000075698 591__ $$aGENETICS & HEREDITY$$b1 / 174 = 0.006$$c2018$$dQ1$$eT1
000075698 592__ $$a30.428$$b2018
000075698 593__ $$aGenetics$$c2018$$dQ1
000075698 593__ $$aMolecular Biology$$c2018$$dQ1
000075698 593__ $$aGenetics (clinical)$$c2018$$dQ1
000075698 655_4 $$ainfo:eu-repo/semantics/review$$vinfo:eu-repo/semantics/publishedVersion
000075698 700__ $$aMoss, J.F.
000075698 700__ $$aSelicorni, A.
000075698 700__ $$aBisgaard, A.M.
000075698 700__ $$aDeardorff, M.A.
000075698 700__ $$aGillett, P.M.
000075698 700__ $$aIshman, S.L.
000075698 700__ $$aKerr, L.M.
000075698 700__ $$aLevin, A.V.
000075698 700__ $$aMulder, P.A.
000075698 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.J.$$uUniversidad de Zaragoza
000075698 700__ $$aWierzba, Jl
000075698 700__ $$aAjmone, P.F.
000075698 700__ $$aAxtell, D.
000075698 700__ $$aBlagowidow, N.
000075698 700__ $$aCereda, A.
000075698 700__ $$aCostantino, A.
000075698 700__ $$aCormier-Daire, V.
000075698 700__ $$aFitzPatrick, D.
000075698 700__ $$aGrados, M.
000075698 700__ $$aGroves, L.
000075698 700__ $$aGuthrie, W.
000075698 700__ $$aHuisman, S.
000075698 700__ $$aKaiser, F.J.
000075698 700__ $$aKoekkoek, G.
000075698 700__ $$aLevis, M.
000075698 700__ $$aMariani, M.
000075698 700__ $$aMcCleery, J.P.
000075698 700__ $$aMenke, L.A.
000075698 700__ $$aMetrena, A
000075698 700__ $$aO'Connor, J.
000075698 700__ $$aOliver, C.
000075698 700__ $$0(orcid)0000-0003-3203-6254$$aPie, J.$$uUniversidad de Zaragoza
000075698 700__ $$aPiening, S.
000075698 700__ $$aPotter, C.J.
000075698 700__ $$aQuaglio, A.L.
000075698 700__ $$aRedeker, E.
000075698 700__ $$aRichman, D.
000075698 700__ $$aRigamonti, C.
000075698 700__ $$aShi, A.
000075698 700__ $$aTümer, Z.
000075698 700__ $$aVan Balkom, I.D.C.
000075698 700__ $$aHennekam, R.C.
000075698 7102_ $$11005$$2410$$aUniversidad de Zaragoza$$bDpto. Farmacología y Fisiolog.$$cÁrea Fisiología
000075698 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría
000075698 773__ $$g19, 10 (2018), 649-666$$pNat. rev., Genet.$$tNature Reviews Genetics$$x1471-0056
000075698 8564_ $$s2106441$$uhttps://zaguan.unizar.es/record/75698/files/texto_completo.pdf$$yVersión publicada
000075698 8564_ $$s112004$$uhttps://zaguan.unizar.es/record/75698/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000075698 909CO $$ooai:zaguan.unizar.es:75698$$particulos$$pdriver
000075698 951__ $$a2020-01-17-22:00:47
000075698 980__ $$aARTICLE