Ontology highlight
ABSTRACT:
SUBMITTER: Kohlhase J
PROVIDER: S-EPMC1377753 | biostudies-other | 1999 Feb
REPOSITORIES: biostudies-other
Kohlhase J J Taschner P E PE Burfeind P P Pasche B B Newman B B Blanck C C Breuning M H MH ten Kate L P LP Maaswinkel-Mooy P P Mitulla B B Seidel J J Kirkpatrick S J SJ Pauli R M RM Wargowski D S DS Devriendt K K Proesmans W W Gabrielli O O Coppa G V GV Wesby-van Swaay E E Trembath R C RC Schinzel A A AA Reardon W W Seemanova E E Engel W W
American journal of human genetics 19990201 2
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 o ...[more]