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Article

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Scientific reports - 12 Nov 2015

Luzón-Toro Berta, Gui Hongsheng, Ruiz-Ferrer Macarena, Sze-Man Tang Clara, Fernández Raquel M, Sham Pak-Chung, Torroglosa Ana, Kwong-Hang Tam Paul, Espino-Paisán Laura, Cherny Stacey S, Bleda Marta, Enguix-Riego María Del Valle, Dopazo Joaquín, Antiñolo Guillermo, García-Barceló María-Mercé, Borrego Salud

Abstract excerpt

Hirschsprung disease (HSCR; OMIM 142623) is a developmental disorder characterized by aganglionosis along variable lengths of the distal gastrointestinal tract, which results in intestinal obstruction. Interactions among known HSCR genes and/or unknown disease susceptibility loci lead to variable severity of phenotype. Neither linkage nor genome-wide association studies have efficiently contributed to completely...

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Source

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Identifiers

PMID: 26559152
DOI: 10.1038/srep16473
PMCID: PMC4642299

Genes

FAT3
AHNAK

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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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