Article

GDNF and GUCY2C mutation associated with Hirschsprung's disease in a trio pedigree: a case report

2020-04-06

Abstract excerpt

<title>Abstract</title> <p>Background: Hirschsprung's disease (HSCR) caused by absence or dysfunction of ganglion cells in the submucosal plexus and intermuscular plexus of the intestinal wall. Studies have shown that homozygous mutations of glial cell-line derived neurotrophic factor ( GDNF ) can lead to the occurrence of HSCR. but heterozygous mutation must combine with other related abnormal genes could to cau...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fb578491-859d-5682-8b3b-16c75f0b5ca2
DOI: 10.21203/rs.3.rs-21172/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

GDNF and GUCY2C mutation associated with Hirschsprung's disease in a trio pedigree: a case reportDOI 10.21203/rs.3.rs-21172/v1Read

Mutations in the NRG1 gene are associated with Hirschsprung disease.Semantic proximity Read

Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.Semantic proximity Read

Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.Semantic proximity Read

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical ApplicationsSemantic proximity Read

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.Semantic proximity Read

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Semantic proximity Read

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.Semantic proximity Read

Exome sequencing identified a novel pathogenic RET variant with high variable expressivity and incomplete penetrance in an extended pedigree with Hirschsprung diseaseSemantic proximity Read

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Semantic proximity Read

NRG1 variant effects in patients with Hirschsprung disease.Semantic proximity Read

Size matters: large copy number losses reveal novel Hirschsprung disease genesSemantic proximity Read

Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese.Semantic proximity Read