High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
Kohlhase
J
J
Institute for Human Genetics and Anthropology, University of Freiburg, Breisacher Str. 33, 79106 Freiburg, Germany. jkohlha@ukl.uni-freiburg.de
Liebers
M
M
Backe
J
J
Baumann-Müller
A
A
Bembea
M
M
Destrée
A
A
Gattas
M
M
Grüssner
S
S
Müller
T
T
Mortier
G
G
Skrypnyk
C
C
Yano
S
S
Wirbelauer
J
J
Michaelis
R C
RC
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D001120:Arginine / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009679:Nuclear Family; D014157:Transcription Factors / Q000235:genetics*
C104146:SALL1 protein, human; D014157:Transcription Factors; D001120:Arginine