Evidence for inheritance in patients with VACTERL association

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Manu S. Raam, Derek A T Cummings

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)731-733
Number of pages3
JournalHuman Genetics
Volume127
Issue number6
DOIs
StatePublished - Jun 2010

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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