Work

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

Year: 2015

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2015.07.004

Authors: Yvan Herenger, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Marie-Cécile Manière, Valérie Pelletier, Yves Alembik, Dominique Christmann, Jean-Michel Clavert, Joelle Terzic, Michel Fischbach, Anne De Saint Martin, Hélène Dollfus

Institutions: Inserm, Hôpitaux Universitaires de Strasbourg, Laboratoire de Génétique Médicale, Université de Strasbourg

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W920482292

FWCI: 1.464

Cites: 22

Cited by: 29

Related to: 10