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March 1, 2001Journal of Medical GeneticsOpen Access

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes?

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VPVéronique PingaultHôpital Necker-Enfants Malades

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Véronique Pingault (2001) studied this question.

synapsesocial.com/papers/6a81b2252d95cd89dee19005https://doi.org/10.1136/jmg.38.3.205
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population1996 · 135 citations
  2. 2Diversity of <i>RET</i> proto-oncogene mutations in familial and sporadic Hirschsprung disease1995 · 317 citations
  3. 3Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.1998 · 85 citations