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Article

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Pediatric research - 1 Jul 2017

Sio Cherry Ann, Jung Kyuwhan, Kim Jeong-Hyun, Cheong Hyun Sub, Shin Eun, Jang Hyejin, Yoon Miok, Jang Huijeong, Shin Hyoung Doo

Abstract excerpt

BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis.MethodsA 2-year-old boy with SoS experienced constipation since...

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Source

Identifiers

PMID: 28399120
DOI: 10.1038/pr.2017.106

Genes

FGD2
KCNJ12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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