PMC:6080766 / 14225-14922 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6080766","sourcedb":"PMC","sourceid":"6080766","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6080766","text":"Table 3 Clinical Phenotype of Individuals with TOP3A and RMI1 Mutations Abbreviations are as follows: CDH, Congenital dislocation of hip; CMAMMA, combined malonic and methylmalonic aciduria (MIM: 614265) due to ACSF3 (MIM: 614245) mutations; HCM, hypertrophic cardiomyopathy; NA, not available; and PEO, progressive external ophthalmoplegia. a Expressive speech delay only. b All individuals are younger than 15 years old; in Bloom syndrome, neoplasia typically manifests in early adulthood. c Recurrent otitis media and tonsillitis, leading to tonsillectomy. d Reccurent upper-respiratory-tract infections and oral thrush. e Mild left-ventricle dilatation. f Anemia due to beta-thalassemia trait.","tracks":[]}