RT Journal Article
SR Electronic
T1 High incidence of the R276X <em>SALL1</em> mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP e127
OP e127
DO 10.1136/jmg.40.11.e127
VO 40
IS 11
A1 J Kohlhase
A1 M Liebers
A1 J Backe
A1 A Baumann-Müller
A1 M Bembea
A1 A Destrée
A1 M Gattas
A1 S Grüßner
A1 T Müller
A1 G Mortier
A1 C Skrypnyk
A1 S Yano
A1 J Wirbelauer
A1 R C Michaelis
YR 2003
UL http://jmg.bmj.com/content/40/11/e127.abstract
AB