Work

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Year: 2006

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/504440

Authors: Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, M. Teresa Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie

Institutions: University of Oxford, MRC Weatherall Institute of Molecular Medicine, Tokushima University, Wellington Hospital, St James's University Hospital, Erasmus MC, Hospital de Dona Estefânia, Birmingham Women's Hospital, Liverpool Women's Hospital, Boston Children's Hospital

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Wellcome Trust

OpenAlex ID: W2160030814

FWCI: 7.619

Cites: 46

Cited by: 105

Related to: 10