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)

Access to Document

Cite this

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease : Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]. / Pingault, V.; Bondurand, N.; Lemort, N.; Sancandi, M.; Ceccherini, I.; Hugot, J. P.; Jouk, P. S.; Goossens, M.

In: Journal of Medical Genetics, Vol. 38, No. 3, 2001, p. 205-208.

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

@article{86d547946b3a46fbb287ad27ac614854,

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",

year = "2001",

language = "English",

volume = "38",

pages = "205--208",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "3",

}

TY - JOUR

T1 - A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease

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

Y1 - 2001

UR - http://www.scopus.com/inward/record.url?scp=0035088039&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035088039&partnerID=8YFLogxK

M3 - Article

C2 - 11303518

AN - SCOPUS:0035088039

VL - 38

SP - 205

EP - 208

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 3

ER -