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Gene Review

BPESC1  -  blepharophimosis, epicanthus inversus and...

Homo sapiens

Synonyms: BPES candidate 1, NCRNA00187
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High impact information on BPESC1


Other interactions of BPESC1

  • In this study, a comparative human/mouse analysis of the orthologous region was carriedout, permittingthe targeting of genes in the 1-Mb environment, and identification of previously unknown mouse orthologues for Pisrt1, Bpesc1 and Chr3syt, and a human orthologue for PISRT1 [2].


  1. 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) [Pubmed]
  2. 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) [Pubmed]
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