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Townes-Brocks syndrome.
Powell CM, Michaelis RC. Powell CM, et al. Among authors: michaelis rc. J Med Genet. 1999 Feb;36(2):89-93. J Med Genet. 1999. PMID: 10051003 Free PMC article. Review.
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
Kohlhase J, Liebers M, Backe J, Baumann-Müller A, Bembea M, Destrée A, Gattas M, Grüssner S, Müller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC. Kohlhase J, et al. Among authors: michaelis rc. J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127. J Med Genet. 2003. PMID: 14627694 Free PMC article. No abstract available.
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