(Q50469876)

14 March 2018

title

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. (English)

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14 March 2018

author

Surasak Sangkhathat

1

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author name string

Piyawan Chiengkriwate

2

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14 March 2018

Takeshi Kusafuka

3

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14 March 2018

Sakda Patrapinyokul

4

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Masahiro Fukuzawa

5

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publication date

20 October 2005

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14 March 2018

Pediatric Surgery International

published in

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volume

21

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issue

12

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page(s)

960-963

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https://scigraph.springernature.com/pub.10.1007/s00383-005-1553-z

exact match

0 references

cites work

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

12 December 2020

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

1 reference

12 December 2020

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

12 December 2020

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.

1 reference

12 December 2020

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.

1 reference

12 December 2020

Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease

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12 December 2020

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

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12 December 2020

EDNRB/EDN3 and Hirschsprung disease type II.

1 reference

12 December 2020

10.1007/S00383-005-1553-Z

Identifiers

DOI

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14 March 2018

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14 March 2018