PMID: 42420940

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

Grzywna-Rozenek Ewa, Sędek Łukasz, Rydzanicz Małgorzata, Borys-Iwanicka Agnieszka, Płoski Rafał, Szczepańska Maria, Brawańska-Maśluch Kinga, Śmigiel Robert

BMC pediatrics · 2026

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