Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc3.xlsx › S2
Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
Teferedegn E et al.
American Journal of Medical Genetics. Part A, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
41100774 (PubMed )
Supplement: po-9-e2400951-s001.pdf
Atypical presentations of RECQL4-related syndromes.
Grossman LD et al.
Pediatric Blood & Cancer, 2024
Select a paper to view details