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Symmetrical enchondromatosis is associated with duplication of
Nov 15, 2010 ... Symmetrical Enchondromatosis is Associated With. Duplication of 12p11.23 to 12p11.22. Including PTHLH. Morag Collinson,. 1. Samantha J.
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Brachydactyly E: isolated or as a feature of a syndrome - Springer
Sep 12, 2013 ... the accurate diagnosis of BDE in association with other features. Even if ..... an isolated case of symmetrical enchondromatosis caused by a de novo duplication of 12p11.23 to 12p11.22 includ- ing PTHLH, the patient showed ...
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(PTHLH) Feedback Mitosis to Downstream DNA Replication
May 25, 2012 ... peripartum cardiomyopathy [7]; Duplication of 12p11.23 to 12p11.22 including PTHLH is related to symmetrical enchondromatosis [8];.
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NIH Public Access - Dadun
Aug 27, 2012 ... Somatic mosaic IDH1 or IDH2 mutations are associated with .... PTHLH duplication (symmetrical enchondromatosis) 25. Mutations in PTH1R ..... Symmetrical enchondromatosis is associated with duplication of 12p11.23 to.
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