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letter . 2001 Mar;38(3):205–209. doi: 10.1136/jmg.38.3.205
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
V PINGAULT
, N BONDURAND
, N LEMORT
, M SANCANDI
, I CECCHERINI
, J HUGOT
, P JOUK
, M GOOSSENS
V PINGAULT
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N BONDURAND
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N LEMORT
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M SANCANDI
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I CECCHERINI
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J HUGOT
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P JOUK
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M GOOSSENS
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PMCID: PMC1734825 PMID: 11303518