Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
NB Agochukwu, DE Pineda-Alvarez, AA Keaton… - European journal of …, 2011 - Elsevier
VACTERL association, a relatively common condition with an incidence of approximately 1
in 20,000–35,000 births, is a non-random association of birth defects that includes vertebral
defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal
anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority
of patients, there is evidence that it is causally heterogeneous. Several studies have shown
evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with …
in 20,000–35,000 births, is a non-random association of birth defects that includes vertebral
defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal
anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority
of patients, there is evidence that it is causally heterogeneous. Several studies have shown
evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with …