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Article

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.

Pediatric neurology - 1 Oct 2023

Dias Joana Valente, Carvalho Ana Araújo, Freixo João Parente, Antunes Diana, Martins Ana Antunes, Painho Teresa, Jacinto Sandra

Abstract excerpt

BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. METHODS: We report the clinical phenotype of two children with TANGO2 deficiency disorder. RESULTS: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and...

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Identifiers

PMID: 37562170
DOI: 10.1016/j.pediatrneurol.2023.07.010

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