Many patients have an identifiable genetic cause of Hirschsprung’s disease2012; 345 doi: http://dx.doi.org/10.1136/bmj.e8199 (Published 03 December 2012) Cite this as: 2012;345:e8199
- Francis H Sansbury, academic clinical fellow/specialty registrar in clinical genetics1,
- Sian Ellard, professor of human molecular genetics2,
- Charles Shaw-Smith, consultant clinical geneticist1,
- Peter Turnpenny, consultant clinical geneticist1
- 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
- 2University of Exeter Medical School, Royal Devon and Exeter Hospital (Wonford), Exeter EX2 5DW, UK
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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