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Article

Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.

American journal of medical genetics. Part A - 1 Apr 2021

Bourcier Liane, Crapoulet Nicolas, Ouellette Rodney J, Mallet Mathieu, Ben Amor Mouna

Abstract excerpt

NRG1 is a gene that encodes for a protein that binds to a receptor of the tyrosine kinase family which is essential for the survival of the central nervous system development during embryogenesis. Mutation of the NRG1 gene causes aganglionosis, which leads to Hirschsprung disease. Two brothers of Acadian descent presented with a history of Hirschsprung disease, in association with other anomalies including...

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PMID: 33421311
DOI: 10.1002/ajmg.a.62069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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