Work

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

Year: 2015

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2015.01.008

Authors: Elfi Vergaelen, Ann Swillen, Hilde Van Esch, Stephan Claes, Gert Van Goethem, Koenraad Devriendt

Institutions: Universitair Ziekenhuis Leuven, KU Leuven, Antwerp University Hospital

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: green

Funders: Fonds Wetenschappelijk Onderzoek, Vlaamse regering

OpenAlex ID: W2070823935

FWCI: 1.239

Cites: 28

Cited by: 19

Related to: 10