Work

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

Year: 1998

Type: article

Study design: Observational Study

Source: American Journal of Medical Genetics

DOI: 10.1002/(sici)1096-8628(19980123)75:3<265::aid-ajmg8>3.0.co;2-p

Authors: Michel Bahuau, Claude Houdayer, Brigitte Assouline, Claudine Blanchet-Bardon, Martine Le Merrer, Stanislas Lyonnet, Sophie Giraud, Dominique R�can, Hakima Lakhdar, Michel Vidaud, Dominique Vidaud

Institutions: Université Paris Descartes, Hôpital Saint-Louis, Hôpital Necker-Enfants Malades, Inserm, Institut Necker Enfants Malades, Hôpital Edouard Herriot, Hôpital Cochin, Groupe Hospitalier Cochin - Port-Royal, Hôtel-Dieu, Broca - La Collégiale

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2045339882

FWCI: 5.87

Cites: 48

Cited by: 52

Related to: 10