(Q28206828)

1

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Jürgen Kunze

2

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Jan Osinga

3

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Anthonie J van Essen

American Journal of Medical Genetics Part A

4

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language of work or name

English

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publication date

15 March 2002

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published in

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volume

108

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issue

3

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page(s)

223-5

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cites work

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

The association of Waardenburg syndrome and Hirschsprung megacolon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10172

21 January 2018

Identifiers

DOI

10.1002/AJMG.10172

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11891690

1 reference

Consolidated OpenCitations Corpus – April 2017