Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
Resumen: The 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 (...).
Idioma: Inglés
DOI: 10.1002/mgg3.1826
Año: 2021
Publicado en: Molecular genetics & genomic medicine 9, 11 (2021), e1826 [3 pp.]
ISSN: 2324-9269

Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-17R
Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-20R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860
Tipo y forma: (Published version)
Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Proy. investigación DUA (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)


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