Work

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

Year: 2012

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmedgenet-2012-101002

Authors: Weimin Bi, Frank J Probst, Joanna Wiszniewska, Katie Plunkett, Erin K Roney, Brian S Carter, Misti D Williams, Pawel Stankiewicz, Ankita Patel, Cathy A Stevens, James R Lupski, Sau Wai Cheung

Institutions: Baylor College of Medicine, Texas Children's Hospital, Monroe Carell Jr. Children's Hospital, Vanderbilt University, University of Tennessee at Chattanooga

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: closed

OpenAlex ID: W2151578322

FWCI: 1.351

Cites: 29

Cited by: 15

Related to: 10