Biallelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Research output: Contribution to journalArticle

Publications

  1. 2019
  2. Published

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Martin Higgs & 15 others, Grant Stewart, 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 439-453

    Research output: Contribution to journalArticle