Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in <i>KANSL1</i> causing Koolen‐de Vries syndrome-Reference-Cited by-同舟云学术

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Published:2022-10-02 Issue:11 Volume:43 Page:1659-1665
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Brand Fabian¹,Vijayananth Aswinkumar¹,Hsieh Tzung‐Chien¹,Schmidt Axel²,Peters Sophia²,Mangold Elisabeth²,Cremer Kirsten²,Bender Tim³,Sivalingam Sugirthan⁴,Hundertmark Hela²,Knaus Alexej¹,Engels Hartmut²,Krawitz Peter M.¹^ORCID,Perne Claudia²

Affiliation:

1. Institute for Genomic Statistics and Bioinformatics Bonn Germany

2. Institute of Human Genetics, School of Medicine, University Hospital Bonn University of Bonn Bonn Germany

3. Center for Rare Disease, Medical Faculty University of Bonn Bonn Germany

4. Core Unit for Bioinformatics Data Analysis, Medical Faculty University of Bonn Bonn Germany

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24467

Reference41 articles.