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Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

2013; Elsevier BV; Volume: 122; Issue: 14 Linguagem: Inglês

10.1182/blood-2013-06-509935

1528-0020

Adrianna Vlachos, Jason E. Farrar, Eva Atsidaftos, Ellen Muir, Anupama Narla, Thomas C. Markello, Sharon Singh, Michael Landowski, Hanna T. Gazda, Lionel Blanc, Johnson M. Liu, Steven R. Ellis, R.J. Arceci, Benjamin L. Ebert, David M. Bodine, Jeffrey M. Lipton,

RNA Research and Splicing

Key Points Small deletions in the RPS14 region of 5q must be considered in atypical 5q− syndrome and nonclassical Diamond Blackfan anemia.