A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies
Year: 2023
Type: article
Study design: Case Report
Abstract: Fanconi anemia, FA, is a rare, multi‐system disease caused by pathogenic variants in DNA repair genes. We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation expands the phenotype of RAD51 ‐associated FA, reported only in three patients previously.
Source: Clinical Case Reports
DOI: 10.1002/ccr3.6810
Institutions: University of Utah, Primary Children's Hospital
Language: English
Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,650
Funder: Intermountain Healthcare
OpenAlex ID: W4317436456