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Duplication of the Xq27.3–q28 region,including the FMR1 gene,in an X‐linked hypogonadism,gynecomastia, intellectual disability,short stature,and obesity syndrome |
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| Authors: | Scott E. Hickey Lauren Walters‐Sen Theresa Mihalic Mosher Ruthann B. Pfau Robert Pyatt Pamela J. Snyder Juan F. Sotos Thomas W. Prior |
| Affiliation: | 1. Section of Human and Molecular Genetics, Nationwide Children's Hospital, , Columbus, Ohio;2. Department of Pediatrics, The Ohio State University College of Medicine, , Columbus, Ohio;3. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, , Columbus, Ohio;4. Department of Pathology, The Ohio State Wexner Medical Center, , Columbus, Ohio;5. Department of Pediatrics, Section of Endocrinology and Metabolism, Nationwide Children's Hospital, , Columbus, Ohio |
| Abstract: | |
| Keywords: | FMR1 chromosomal duplication developmental delay copy number |