Work

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Year: 1995

Type: article

Study design: Case Report

Source: Nature Genetics

DOI: 10.1038/ng0295-173

Authors: Paul Rutland, Louise J. Pulleyn, William Reardon, Michael Baraitser, Richard Hayward, Barry Jones, Sue Malcolm, Robin M. Winter, Michael Oldridge, Sarah F. Slaney, Michael D. Poole, Andrew O.M. Wilkie

Institutions: Great Ormond Street Hospital, John Radcliffe Hospital, University of Oxford, Churchill Hospital

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Wellcome Trust

OpenAlex ID: W2104281222

FWCI: 74.46

Cites: 20

Cited by: 447

Related to: 10