Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation
Authors:
- 18 August 2003
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 125A (1) , 102-104
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- SALL1 mutations in Townes-Brocks syndrome and related disordersHuman Mutation, 2000
- ASALL1 mutation causes a branchio-oto-renal syndrome-like phenotype: Figure 1Journal of Medical Genetics, 2000
- Townes-Brocks syndrome: Detection of aSALL1 mutation hot spot and evidence for a position effect in one patientHuman Mutation, 1999
- Molecular Analysis of SALL1 Mutations in Townes-Brocks SyndromeThe American Journal of Human Genetics, 1999
- Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndromeNature Genetics, 1998