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Article

A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy.

European journal of medical genetics - 1 Jun 2018

Sekiguchi Kazuhito, Itonaga Tomoyo, Maeda Tomoki, Fukami Maki, Yorifuji Tohru, Ihara Kenji

Abstract excerpt

CHARGE syndrome is a rare autosomal dominant disorder involving multiple organs. Chromodomain helicase DNA binding protein-7 (CHD7) is a major causative gene of CHARGE syndrome. We herein report a male infant born at full term with asphyxia who was diagnosed with CHARGE syndrome based on the typical anomalies. He showed a poor sucking ability and suffered from continuous hypoglycemia in early infancy, ultimately...

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Source

Identifiers

PMID: 29355723
DOI: 10.1016/j.ejmg.2018.01.008

Genes

CHD7

Variants

Provenance

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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A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy.PMID 29355723Read ↗

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