Article
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
American journal of medical genetics. Part A - 1 Jun 2016
Alter Blanche P, Giri Neelam
Abstract excerpt
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute...
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