Hirschsprung’s disease

Many patients have an identifiable genetic cause of Hirschsprung’s disease

BMJ 2012; 345 doi: http://dx.doi.org/10.1136/bmj.e8199 (Published 3 December 2012)
Cite this as: BMJ 2012;345:e8199

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  1. Francis H Sansbury, academic clinical fellow/specialty registrar in clinical genetics1,
  2. Sian Ellard, professor of human molecular genetics2,
  3. Charles Shaw-Smith, consultant clinical geneticist1,
  4. Peter Turnpenny, consultant clinical geneticist1
  1. 1Peninsula Clinical Genetics Service, and Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK
  2. 2University of Exeter Medical School, Royal Devon and Exeter Hospital (Wonford), Exeter EX2 5DW, UK
  1. fsansbury{at}nhs.net

As Arshad and colleagues point out, some patients with Hirschsprung’s disease will have a family history.1 Many patients will also have an identifiable genetic cause.

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