Gene Review:
BPESC1 - blepharophimosis, epicanthus inversus and...
Homo sapiens
Synonyms:
BPES candidate 1, NCRNA00187
- Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. De Baere, E., Fukushima, Y., Small, K., Udar, N., Van Camp, G., Verhoeven, K., Palotie, A., De Paepe, A., Messiaen, L. Genomics (2000)
- Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus. Nikic, S., Vaiman, D. Chromosome Res. (2004)