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Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

Pamela Trejo1, Frank Rauch1, Francis H Glorieux1

  • 1Shriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.

Molecular Syndromology
|December 13, 2017
PubMed

Keywords:
B3GALT6Joint laxitySkeletal dysplasiaSpondyloepimetaphyseal dysplasia

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