000108565 001__ 108565
000108565 005__ 20230706131419.0
000108565 0247_ $$2doi$$a10.1002/mgg3.1826
000108565 0248_ $$2sideral$$a125102
000108565 037__ $$aART-2021-125102
000108565 041__ $$aeng
000108565 100__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza
000108565 245__ $$aThings are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
000108565 260__ $$c2021
000108565 5060_ $$aAccess copy available to the general public$$fUnrestricted
000108565 5203_ $$aThe diagnosis success rates for developmental disorders have greatly improved in the last years mainly due to the widespread use of DNA next- generation sequencing. Nevertheless, several studies have stressed the importance of a critical reconsideration of genetic results and a further implementation of protocols for variant- level reevaluation and case- level reanalysis (Deignan et al., 2019). This is es-pecially relevant in the context of syndromes, such as the chromatinopathies Cornelia de Lange syndrome (CdLS, OMIM#122470) and KBG syndrome (KBGS, OMIM #148050), with overlapping phenotypes that may evolve over time (Parenti et al., 2021). Here, we present a chal-lenging familiar case reanalyzed in which phenotypic features of both KBGS and CdLS are observed, and where genetic variants in ANKRD11 and NIPBL were identified (...).
000108565 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/DGA/B32-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860
000108565 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000108565 590__ $$a2.473$$b2021
000108565 592__ $$a0.618$$b2021
000108565 594__ $$a3.3$$b2021
000108565 591__ $$aGENETICS & HEREDITY$$b122 / 175 = 0.697$$c2021$$dQ3$$eT3
000108565 593__ $$aGenetics (clinical)$$c2021$$dQ3
000108565 593__ $$aGenetics$$c2021$$dQ3
000108565 655_4 $$ainfo:eu-repo/semantics/other$$vinfo:eu-repo/semantics/publishedVersion
000108565 700__ $$aAscaso, Ángela
000108565 700__ $$aLucia-Campos, Cristina
000108565 700__ $$0(orcid)0000-0001-6858-1575$$aGil-Salvador, Marta$$uUniversidad de Zaragoza
000108565 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza
000108565 700__ $$aAntoñanzas, Rebeca$$uUniversidad de Zaragoza
000108565 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna
000108565 700__ $$aMarcos-Alcalde, Iñigo
000108565 700__ $$aGómez-Puertas, Paulino
000108565 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000108565 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza
000108565 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza
000108565 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000108565 7102_ $$11012$$2X$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cProy. investigación DUA
000108565 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000108565 773__ $$g9, 11 (2021), e1826 [3 pp.]$$pMol Genet Genomic Med$$tMolecular genetics & genomic medicine$$x2324-9269
000108565 8564_ $$s521046$$uhttps://zaguan.unizar.es/record/108565/files/texto_completo.pdf$$yVersión publicada
000108565 8564_ $$s3289058$$uhttps://zaguan.unizar.es/record/108565/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000108565 909CO $$ooai:zaguan.unizar.es:108565$$particulos$$pdriver
000108565 951__ $$a2023-07-06-12:21:03
000108565 980__ $$aARTICLE