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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Autors principals:	Natalia Krawczynska, Alina Kuzniacka, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasag
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2018-07-01
Col·lecció:	Frontiers in Genetics
Matèries:	Cornelia de Lange syndrome CdLS NIPBL gene mosaic variant family case deep sequencing
Accés en línia:	https://www.frontiersin.org/article/10.3389/fgene.2018.00255/full
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