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. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
W Borozdin
, D Boehm
, M Leipoldt
, C Wilhelm
, W Reardon
, J Clayton-Smith
, K Becker
, H Muhlendyck
, R Winter
, O Giray
, F Silan
, J Kohlhase
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PMCID: PMC1735888 PMID: 15342710