Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Anne Kroigard, Andrew Jackson, Louise Bicknell, Emma Baple, Klaus Brusgaard, Lars Hansen, Lilian Ousager

Research output: Contribution to journal › Article › peer-review

Original languageEnglish
JournalClinical dysmorphology
Early online date4 Dec 2015
DOIs
Publication statusPublished - Apr 2016

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    • CROATIA PROGRAMME

      Wright, A. (Principal Investigator), Adams, I. (Co-investigator), Aligianis, I. (Co-investigator), Baldock, R. (Co-investigator), Bickmore, W. (Co-investigator), Caceres, J. (Co-investigator), Dorin, J. (Co-investigator), Dunlop, M. (Co-investigator), FitzPatrick, D. (Co-investigator), Haley, C. (Co-investigator), Hastie, N. (Co-investigator), Hill, B. (Co-investigator), Jackson, I. (Co-investigator), Jackson, A. (Co-investigator), Kudla, G. (Co-investigator), Meehan, R. (Co-investigator), O'Connell, M. (Co-investigator), Overton, I. (Co-investigator), Patton, E. (Co-investigator), Taylor, M. (Co-investigator), Tenesa, A. (Co-investigator) & Van Heyningen, V. (Co-investigator)

      MRC

      1/04/12 → 31/07/13

      Project: Research

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