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Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain |
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| Authors: | Kitiwan Rojnueangnit Julie R. Jones Monica J. Basehore Nathaniel H. Robin |
| Affiliation: | 1. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama;2. Greenwood Genetic Center, Greenwood, South Carolina;3. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama |
| Abstract: | |
| Keywords: | Coffin– Lowry syndrome X‐linked syndrome stimulus‐induced drop episodes (SIDEs) progressive skeletal changes RPS6KA3 mutation |