Abstract
VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.
Original language | English (US) |
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Pages (from-to) | 731-733 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 127 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2010 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics