High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
作者信息
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 R C
机构信息
Institute for Human Genetics and Anthropology, University of Freiburg, Breisacher Str. 33, 79106 Freiburg, Germany.
出版信息
J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127.
Abstract
摘要
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