2. Academic Validation
  3. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

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

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
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