• Media type: E-Article
  • Title: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
  • Contributor: Chen, Chun-An; Bosch, Daniëlle G.M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P.M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; [...]
  • imprint: Elsevier BV, 2016
  • Published in: Genetics in Medicine
  • Language: English
  • DOI: 10.1038/gim.2016.18
  • ISSN: 1098-3600
  • Keywords: Genetics (clinical)
  • Origination:
  • Footnote:
  • Access State: Open Access