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Article

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

BMC medical genetics - 19 Nov 2009

Núñez-Torres Rocío, Fernández Raquel M, López-Alonso Manuel, Antiñolo Guillermo, Borrego Salud

Abstract excerpt

BACKGROUND: Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, mainly the RET proto-oncogene, have been related to the dis...

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Source

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Identifiers

PMID: 19925665
DOI: 10.1186/1471-2350-10-119
PMCID: PMC2784767

Genes

RET
EDN3
GDNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19925665-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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