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A novel dominant COL11A1 mutation resulting in a severe ske..:

Hufnagel, Sophia B. ; Weaver, K Nicole ; Hufnagel, Robert B....
American Journal of Medical Genetics Part A.  164 (2014)  10 - p. 2607-2612 , 2014
Link: https://doi.org/10.1002/ajmg.a.36688