Work

TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

Year: 2007

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2007.12.003

Authors: Caroline Schluth-Bolard, Marianne Till, Audrey Labalme, Catherine Rey, Emmanuelle Banquart, Anne Fautrelle, Tanguy Martin-Denavit, Marc Le Lorc'h, Serge Pierrick Romana, Vladimir Lazar, Patrick Edery, Damien Sanlaville

Institutions: Lyon 1 Université, Hospices Civils de Lyon, Hôtel-Dieu de Lyon, Hôpital Necker-Enfants Malades, Institut Gustave Roussy

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

Funder: Hospices Civils de Lyon

OpenAlex ID: W2020504221

FWCI: 0.565

Cites: 18

Cited by: 24

Related to: 10