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Article

Acute myeloid leukemia associated with CHARGE syndrome.

American journal of medical genetics. Part A - 1 Mar 2023

Shuto Marie, Hirano Naoki, Oguri Saori, Itonaga Tomoyo, Inoue Masanori, Suenobu Souichi, Ihara Kenji

Abstract excerpt

CHARGE syndrome is a malformation disorder with diverse phenotypes that shows autosomal dominance with heterozygous variants in the chromodomain helicase DNA-binding 7 (CHD7) gene. Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CHARGE syndrome who developed acute myelogenous leukemia at 12 years old. She had mild intellectual...

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Identifiers

PMID: 36543163
DOI: 10.1002/ajmg.a.63087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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