Natural history of TANGO2 deficiency disorder: baseline assessment of 73 patients
CY Miyake, EJ Lay, C Soler-Alfonso, KE Glinton… - Genetics in …, 2023 - Elsevier
Purpose TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported
in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia,
hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study
was to define the natural history of TDD. Methods Data were collected from an ongoing
natural history study of patients with TDD enrolled between February 2019 and May 2022.
Data were obtained through phone or video based parent interviews and medical record …
in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia,
hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study
was to define the natural history of TDD. Methods Data were collected from an ongoing
natural history study of patients with TDD enrolled between February 2019 and May 2022.
Data were obtained through phone or video based parent interviews and medical record …
