SETD5 loss‐of‐function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

SETD5 loss‐of‐function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

Authors:	Krzysztof Szczałuba Monika Brzezinska Justyna Kot Małgorzata Rydzanicz Anna Walczak Piotr Stawiński Bożena Werner Rafał Płoski

Affiliation:	1. MedGen Medical Centre, Warsaw, Poland;2. Mastermed Medical Centre, Białystok, Poland;3. Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland;4. Department of Social and Religion Psychology, Institute of Psychology, The John Paul II Catholic University of Lublin, Lublin, Poland;5. Department of Medical Genetics, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland;6. Institute of Physilogy and Pathology of Hearing, Warsaw, Poland;7. Correspondence to:;8. Rafal Ploski, M.D., Ph.D., Department of Medical Genetics, Warsaw Medical University, ul. Pawinskiego 3c, Warsaw 02‐106, Poland.;9. E‐mail

Abstract:

Keywords:	intellectual disability SETD5 3p deletions exome sequencing