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X‐linked VACTERL‐hydrocephalus syndrome (X‐linked VACTERL‐H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross‐linking agents. Only five FANCB mutations found in six affected males, including an affected uncle and nephew, have been reported. We have...
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