title: High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
authors: Institute for Human Genetics and Anthropology, University of Freiburg, Breisacher Str. 33, 79106 Freiburg, Germany. jkohlha@ukl.uni-freiburg.de
authors: J
authors: J
authors: Kohlhase
authors: M
authors: M
authors: Liebers
authors: J
authors: J
authors: Backe
authors: A
authors: A
authors: Baumann-Müller
authors: M
authors: M
authors: Bembea
authors: A
authors: A
authors: Destrée
authors: M
authors: M
authors: Gattas
authors: S
authors: S
authors: Grüssner
authors: T
authors: T
authors: Müller
authors: G
authors: G
authors: Mortier
authors: C
authors: C
authors: Skrypnyk
authors: S
authors: S
authors: Yano
authors: J
authors: J
authors: Wirbelauer
authors: R C
authors: RC
authors: Michaelis
mesh_terms: 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*
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors; D001120:Arginine