TBCK syndrome: a rare multi-organ neurodegenerative disease
Emily L. Durham, Rajesh Angireddy, Aaron Black, Ashley Melendez-Perez, Sarina Smith, Elizabeth M. Gonzalez, Kristen G. Navarro, Abdias Díaz, Elizabeth Bhoj, Kaitlin Katsura
Topics & Concepts
HypotoniaCraniofacialMagnetic resonance imagingCraniofacial abnormalityRare diseaseMedicineClinical phenotypeDiseaseNeurologyPhenotypeNeurosciencePathologyBiologyPediatricsGeneticsRadiologyPsychiatryGeneRNA modifications and cancerNeurological diseases and metabolismMitochondrial Function and Pathology