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Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal

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References

  1. Shaw-Smith C . Oesophageal ataresia, tracheoesophageal fistula and the VACTERL association; review of genetics and epidemiology. J Med Genet 2006; 43: 545–554.

    Article  CAS  Google Scholar 

  2. Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H . VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical and autopsy findings in two brothers. Am J Med Genet 1996; 62: 169–172.

    Article  CAS  Google Scholar 

  3. DeWinger JP, vanderWeel L, deGroot J, Stone S, Waisfisz Q, Arwert F et al. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum Mol Genet 2000; 18: 2665–2674.

    Google Scholar 

  4. Moghrabi NN, Johnson MA, Yoshitomi MJ, Zhu XM, Aldhalimy MJ, Olson SB et al. Validation of Fanconi anemia complementation group A assignment using molecular analysis. Genet Med 2009; 11: 183–193.

    Article  Google Scholar 

  5. Berrebi D, Lebras MN, Belari N, Couturier J, Fattet S, Faye A et al. Bilateral adrenal neuroblastoma and nephroblastoma occurring syncorhonously in a child with Fanconi anemia and VACTERL syndrome. J Pediatr Surg 2006; 41: 11–13.

    Article  Google Scholar 

  6. Tischkowitz MD, Hodgson SV . Fanconi anaemia. J Med Genet 2003; 40: 1–10.

    Article  CAS  Google Scholar 

  7. deKeerviler E, Guermazi A, Zagdanski AM, Goluckman E, Frija J . Clinical and radiological features of Fanconi anaemia. Clin Radiol 2000; 55: 340–345.

    Article  Google Scholar 

  8. Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG . Fanconi anaemia complementation group B present as x-linked VACTERL with hydrocephalus syndrome. J Med Genet 2006; 43: 750–754.

    Article  CAS  Google Scholar 

  9. Gluckman E, Wagner JE . Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome. Bone Marrow Transplant 2008; 41: 127–132.

    Article  CAS  Google Scholar 

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Correspondence to T E Herman.

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Herman, T., Siegel, M. Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal. J Perinatol 30, 73–76 (2010). https://doi.org/10.1038/jp.2009.105

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