Work

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

Year: 2015

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2015.03.011

Authors: K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel, Joaquin Navajas Acedo, Luke L. Linscott, Kristen L. Sund, Patricia L. Bender, Rainer König, Charles M. Lourenco, Ute Hehr, Robert J. Hopkin, Dietmar R. Lohmann, Paul A. Trainor, Dagmar Wieczorek, Howard M. Saal

Institutions: Cincinnati Children's Hospital Medical Center, University of Cincinnati, Stowers Institute for Medical Research, University of Kansas Medical Center, University Hospital Frankfurt, Universidade de São Paulo, Clinics Hospital of Ribeirão Preto, University Hospital Regensburg, Essen University Hospital, University of Duisburg-Essen

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Stowers Institute for Medical Research, Johns Hopkins University, Bundesministerium für Bildung und Forschung, National Institutes of Health, National Institute of Dental and Craniofacial Research

Awards: G2449993625, G2656330041, G2666758041, G3529713033, G5793620445, Verbundprojekt: Forschungsverbund ausgewählter craniofacialer Entwicklungsstörungen (FACE): TP2: Erkrankungen des ersten und zweiten Kiemenbogens, TP6: Etablierung eines FACE Support Centers, polr1c and polr1d mutant zebrafish as new models for Treacher Collins syndrome, E-Rare Verbund: Ganzheitlicher klinischer und wissenschaftlicher Ansatz für kraniofaziale Fehlbildungen (CRANIRARE), Teilprojekt Essen

OpenAlex ID: W1980847733

FWCI: 4.794

Cites: 38

Cited by: 85

Related to: 10