Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome
Author:
Affiliation:
1. Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
2. McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health
Reference11 articles.
1. Molecular basis of the Schuurs-Hoeijmakers syndrome: what we know about the gene and the PACS-1 protein and novel therapeutic approaches.;Arnedo;Int J Mol Sci,2022
2. A framework for variation discovery and genotyping using next-generation DNA sequencing data.;DePristo;Nat Genet,2011
3. Fast and accurate short read alignment with Burrows-Wheeler Transform.;Li;Bioinformatics,2009
4. A novel multi-exon deletion of PACS1 in a three-generation pedigree: supplements to PACS1 neurodevelopmental disorder spectrum.;Liu;Front Genet,2021
5. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.;McKenna;Genome Res,2010
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