Work

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Year: 2011

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2011.239

Authors: Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, Elke Van Oudenhove, Marleen Simon, Ali Rihani, Bart Loeys, Joel Hirschhorn, Jean Pfotenhauer, John A Phillips, Shehla Mohammed, Caroline Ogilvie, John Crolla, Geert Mortier, Björn Menten

Institutions: Ghent University Hospital, Boston Children's Hospital, Erasmus MC, Vanderbilt University, Guy's Hospital, Salisbury District Hospital, Wessex Regional Genetics Laboratory

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Fonds Wetenschappelijk Onderzoek, Vlaamse regering, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature

OpenAlex ID: W2040446259

FWCI: 2.19

Cites: 47

Cited by: 32

Related to: 10