2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
Funnell AP, Prontera P, Ottaviani V, Piccione M, Giambona A, Maggio A, Ciaffoni F, Stehling-Sun S, Marra M, Masiello F, Varricchio L, Stamatoyannopoulos JA, Migliaccio AR, Papayannopoulou T.
Funnell AP, et al. Among authors: papayannopoulou t.
Blood. 2015 Jul 2;126(1):89-93. doi: 10.1182/blood-2015-04-638528. Epub 2015 May 27.
Blood. 2015.
PMID: 26019277
Free PMC article.