Work

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Year: 2004

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/383093

Authors: Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Valérie Cormier-Daire, Laurence Colleaux

Institutions: Hôpital Necker-Enfants Malades, Inserm, Hôpital Armand-Trousseau, Centre Européen de la Céramique, Institut de Recherche sur les Céramiques, Université de Limoges

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2069852012

FWCI: 5.538

Cites: 14

Cited by: 120

Related to: 10