Work

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Year: 1997

Type: article

Study design: Observational Study

Source: Nature Genetics

DOI: 10.1038/ng1197-285

Authors: Nandita A. Quaderi, Susann Schweiger, Karin Gaudenz, Brunella Franco, Elena I. Rugarli, Wolfgang Berger, George J. Feldman, Manuela Volta, Grazia Andolfi, S. Gilgenkrantz, Robert W. Marion, Raoul C.M. Hennekam, John M. Opitz, Maximilian Muenke, Hilger H. Ropers, Andrea Ballabio

Institutions: Telethon Institute Of Genetics And Medicine, Max Planck Institute for Molecular Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Albert Einstein College of Medicine, Montefiore Medical Center, University of Amsterdam, University of Utah, Radboud University Nijmegen

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: MOLECULAR STUDIES OF HOLOPROSENCEPHALY, G5706487599, G7087451229, GENETIC ANALYSIS OF HUMAN BRAIN DEVELOPMENT

OpenAlex ID: W2155584359

FWCI: 13.5

Cites: 59

Cited by: 364

Related to: 10