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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

J Kohlhase, M Liebers, J Backe, A Baumann-Muller, M Bembea, A Destree, M Gattas, S Grussner, T Muller, G Mortier, C Skrypnyk, S Yano, J Wirbelauer, R Michaelis
PMCID: PMC1735324  PMID: 14627694

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