Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype
- 1 July 2003
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 73 (1) , 74-85
- https://doi.org/10.1086/376436
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Holt‐Oram syndrome: Is there a “face”?American Journal of Medical Genetics Part A, 2003
- Detection of a large TBX5 deletion in a family with Holt-Oram syndromeJournal of Medical Genetics, 2001
- The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossiaNature Genetics, 2001
- A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and DiseaseCell, 2001
- Chamber-Specific Cardiac Expression of Tbx5 and Heart Defects in Holt–Oram SyndromeDevelopmental Biology, 1999
- Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutationsProceedings of the National Academy of Sciences, 1999
- Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative studyPublished by Elsevier ,1998
- Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeNature Genetics, 1997
- Mutations in human cause limb and cardiac malformation in Holt-Oram syndromeNature Genetics, 1997
- The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)New England Journal of Medicine, 1994