Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

  • Am J Med Genet A. 2018 Dec;176(12):2934-2935. doi: 10.1002/ajmg.a.40631.
Belinda Campos-Xavier  1 ,  R Curtis Rogers  2 ,  Florence Niel-Bütschi  1 ,  Catarina Ferreira  1 ,  Sheila Unger  1 ,  Jürgen Spranger  2 ,  Andrea Superti-Furga  1
Affiliations
  • 1. Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.
  • 2. Greenwood Genetic Center, Greenville, South Carolina.
PMID: 30284759 DOI: 10.1002/ajmg.a.40631