TY - GEN AU - Kohlhase,J AU - Taschner,P E AU - Burfeind,P AU - Pasche,B AU - Newman,B AU - Blanck,C AU - Breuning,M H AU - ten Kate,L P AU - Maaswinkel-Mooy,P AU - Mitulla,B AU - Seidel,J AU - Kirkpatrick,S J AU - Pauli,R M AU - Wargowski,D S AU - Devriendt,K AU - Proesmans,W AU - Gabrielli,O AU - Coppa,G V AU - Wesby-van Swaay,E AU - Trembath,R C AU - Schinzel,A A AU - Reardon,W AU - Seemanova,E AU - Engel,W TI - Molecular analysis of SALL1 mutations in Townes-Brocks syndrome SN - 0002-9297 PY - 1999///0413 KW - Abnormalities, Multiple KW - genetics KW - Anus, Imperforate KW - Base Sequence KW - Cloning, Molecular KW - Exons KW - Female KW - Frameshift Mutation KW - Hearing Loss, Sensorineural KW - Humans KW - Male KW - Molecular Sequence Data KW - Mutation KW - Pedigree KW - Polymorphism, Genetic KW - Syndrome KW - Transcription Factors KW - Zinc Fingers N1 - Publication Type: Journal Article UR - https://doi.org/10.1086/302238 ER -