Novel mosaic variants in two patients with Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Novel mosaic variants in two patients with Cornelia de Lange syndrome

Published:2018-11 Issue:11 Volume:61 Page:680-684
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Pozojevic Jelena,Parenti Ilaria,Graul-Neumann Luitgard,Ruiz Gil Sara,Watrin Erwan,Wendt Kerstin S.,Werner Ralf,Strom Tim M.,Gillessen-Kaesbach Gabriele,Kaiser Frank J.

Funder

German Federal Ministry of Education and Research (BMBF)

E-Rare-2 TARGET-CdLS

Medical Faculty of the University of Lübeck

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference36 articles.

1. Post-zygotic Point Mutations Are an Underrecognized Source of de Novo Genomic Variation;Acuna-Hidalgo;Am. J. Hum. Genet.,2015

2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism;Ansari;J. Med. Genet.,2014

3. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience;Bhuiyan;J. Med. Genet.,2006

4. Hidden mutations in Cornelia de Lange syndrome limitations of Sanger sequencing in molecular diagnostics;Braunholz;Hum. Mutat.,2015

5. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?;Castronovo;Clin. Genet.,2010

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3. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome;American Journal of Medical Genetics Part A;2020-05-31

4. Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes;International Journal of Molecular Sciences;2020-02-04

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