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Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

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Year: 2010
Type: article
Study design: Observational Study
Source: The Journal of Pediatrics
DOI: 10.1016/j.jpeds.2010.09.062
Authors: Claudia Soler-Alfonso, Kathleen J. Motil, Catherine L. Turk, Patricia Robbins-Furman, Ellen M. Friedman, Feng Zhang, James R. Lupski, J. Kennard Fraley, Lorraine Potocki
Institutions: Baylor College of Medicine, Children's Nutrition Research Center at Baylor College of Medicine, Texas Children's Hospital
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME, General Clinical Research Center, G71706220
OpenAlex ID: W1981151046
FWCI: 2.521
Cites: 14
Cited by: 49
Related to: 10
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