A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]

V. Pingault; N. Bondurand; N. Lemort; M. Sancandi; I. Ceccherini; J. P. Hugot; P. S. Jouk; M. Goossens

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]

V. Pingault, N. Bondurand, N. Lemort, M. Sancandi, I. Ceccherini, J. P. Hugot, P. S. Jouk, M. Goossens

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	205-208
Number of pages	4
Journal	Journal of Medical Genetics
Volume	38
Issue number	3
Publication status	Published - 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]",

author = "V. Pingault and N. Bondurand and N. Lemort and M. Sancandi and I. Ceccherini and Hugot, {J. P.} and Jouk, {P. S.} and M. Goossens",

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T2 - Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]

AU - Pingault, V.

AU - Bondurand, N.

AU - Lemort, N.

AU - Sancandi, M.

AU - Ceccherini, I.

AU - Hugot, J. P.

AU - Jouk, P. S.

AU - Goossens, M.

PY - 2001

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JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

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A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]

ASJC Scopus subject areas

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