Publication: Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
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Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., Pauli, R. M., Wargowski, D. S., Devriendt, K., Proesmans, W., Gabrielli, O., Coppa, G. V., Wesby-van Swaay, E., … Engelsberger, W. R. (1999). Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. American Journal of Human Genetics, 64, 435–445. https://doi.org/10.1086/302238
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Abstract
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS. To determine the spectrum of SALL1 mutations and to investigate the genotype-phenotype correlations in TBS, we examined 23 additional families with TBS or similar phenotypes for SALL1 mutations. In 9 of these families mutations were identified. None of the mutations has previously been desc
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- Kohlhase, Jürgen
- Taschner, Peter E M
- Burfeind, Peter
- Pasche, Bastian
- Newman, Bill
- Blanck, Christopher
- Breuning, Martijn H
- ten Kate, Leo P
- Maaswinkel-Mooy, Petra
- Mitulla, Beate
- Seidel, Jörg
- Kirkpatrick, Susan J
- Pauli, Richard M
- Wargowski, David S
- Devriendt, Koen
- Proesmans, Willem
- Gabrielli, Orazio
- Coppa, Giovanni V
- Wesby-van Swaay, Eveline
- Trembath, Richard C
- Reardon, William
- Seemanova, Eva
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Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., Pauli, R. M., Wargowski, D. S., Devriendt, K., Proesmans, W., Gabrielli, O., Coppa, G. V., Wesby-van Swaay, E., … Engelsberger, W. R. (1999). Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. American Journal of Human Genetics, 64, 435–445. https://doi.org/10.1086/302238
