Article
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
American journal of human genetics - 1 Feb 1999
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
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Anus, Imperforate
- Base Sequence
- Cloning, Molecular
- Exons
- Female
- Frameshift Mutation
- Hearing Loss, Sensorineural
- Humans
- Male