Other Names for this Disease
- Desbuquois dysplasia
- Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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Desbuquois syndrome type 1 and Kim variant are caused by mutations in the CANT1 gene (located on chromosome 17q25.3). In some cases of Desbuquois syndrome type 2 there are mutations in the XYLT1 gene (located on chromosome16p12), but in other cases no cause has been identified, suggesting that there may be other unidentified genes that may also cause the condition.
Last updated: 9/14/2015
- Desbuquois syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631. Accessed 9/14/2015.