Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

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...

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Detalhes bibliográficos
Main Authors: Kohlhase, J, Taschner, P E, 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, Trembath, R C, Schinzel, A A, Reardon, W, Seemanova, E, Engel, W
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377753/
https://ncbi.nlm.nih.gov/pubmed/9973281
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