Mosaic Intronic <i>NIPBL</i> Variant in a Family With Cornelia de Lange Syndrome.

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

Krawczynska, Natalia; Kuzniacka, Alina; Wierzba, Jolanta; Parenti, Ilaria; Kaiser, Frank J; Wasag, Bartosz.

Afiliação

Krawczynska N; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
Kuzniacka A; Laboratory of Clinical Genetics, University Clinical Centre, Gdansk, Poland.
Wierzba J; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
Parenti I; Laboratory of Clinical Genetics, University Clinical Centre, Gdansk, Poland.
Kaiser FJ; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland.
Wasag B; Department of General Nursery, Medical University of Gdansk, Gdansk, Poland.

Front Genet ; 9: 255, 2018.

Article em En | MEDLINE | ID: mdl-30057591