Work

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

Year: 1999

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/302245

Authors: Michael Oldridge, Elaine H. Zackai, Donna M. McDonald-McGinn, Sachiko Iseki, Gillian M. Morriss-Kay, Stephen R.F. Twigg, David Johnson, Steven A. Wall, Wen Jiang, Christiane Theda, Ethylin Wang Jabs, Andrew O.M. Wilkie

Institutions: John Radcliffe Hospital, University of Oxford, Children's Hospital of Philadelphia, Johns Hopkins University, Johns Hopkins Medicine

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: bronze

Funders: Wellcome Trust, National Institute of Dental and Craniofacial Research, National Center for Research Resources

Awards: G373348672, FIBROBLAST GROWTH FACTOR RECEPTORS IN CRANIOSYNOSTOSIS

OpenAlex ID: W2035529654

FWCI: 13.55

Cites: 61

Cited by: 251

Related to: 10