SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
2004 | journal article. A publication with affiliation to the University of Göttingen.
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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
Borozdin, W.; Boehm, D.; Leipoldt, M.; Wilhelm, C.; Reardon, W.; Clayton-Smith, J. & Becker, K. et al. (2004)
Journal of Medical Genetics, 41(9) art. e113. DOI: https://doi.org/10.1136/jmg.2004.019901