Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic NIPBL variants are detected and 15% of them are predicted to affect splicing....

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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Krawczynska, Natalia, Kuzniacka, Alina, Wierzba, Jolanta, Parenti, Ilaria, Kaiser, Frank J., Wasag, Bartosz
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2018
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6053508/
https://ncbi.nlm.nih.gov/pubmed/30057591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00255
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