Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG.
Ng D, et al. Among authors: perveen r.
Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 Mar 7.
Nat Genet. 2004.
PMID: 15004558