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Article

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

Genomics - 1 Jun 2003

Ferrante Maria I, Barra Adriano, Truong Jean-Pierre, Banfi Sandro, Disteche Christine M, Franco Brunella

Abstract excerpt

Oral-facial-digital type 1 (OFD1) syndrome is an X-linked dominant condition characterized by malformations of the face, oral cavity, and digits. The responsible gene, OFD1, maps to human Xp22 and has an unknown function. We isolated and characterized the mouse Ofd1 gene and showed that it is subject to X-inactivation, in contrast to the human gene. Furthermore, we excluded a role for Ofd1 in the pathogenesis of...

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PMID: 12782125
DOI: 10.1016/s0888-7543(03)00091-0

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Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.PMID 12782125Read ↗

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