A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures
2018
Summary
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood.
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