Published in
American Society of Hematology, Blood, 1(126), p. 89-93, 2015
DOI: 10.1182/blood-2015-04-638528
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2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment
Journal article published in 2015 by
Alister P. W. Funnell,
Paolo Prontera,
Valentina Ottaviani,
Maria Piccione 
,
Antonino Giambona,
Aurelio Maggio,
Fiorella Ciaffoni,
Sandra Stehling-Sun,
Manuela Marra,
Francesca Masiello,
Lilian Varricchio,
John A. Stamatoyannopoulos,
Anna R. Migliaccio,
Thalia Papayannopoulou
,
Antonino Giambona,
Aurelio Maggio,
Fiorella Ciaffoni,
Sandra Stehling-Sun,
Manuela Marra,
Francesca Masiello,
Lilian Varricchio,
John A. Stamatoyannopoulos,
Anna R. Migliaccio,
Thalia Papayannopoulou
This paper is made freely available by the publisher.
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Abstract
Key Points Elevation of HbF in 3 patients heterozygous for distinct 2p15-p16.1 syndrome microdeletions affecting BCL11A. Identification of novel, putative regulatory elements downstream of BCL11A that govern its expression in erythroid cells.