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Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum

Long Guo1, Nursel H Elcioglu2,3, Zheng Wang1,4

  • 1Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Human Genome Variation
|October 7, 2017
PubMed

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