@misc{indiciaeaadbde85d1cd, title = {Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.}, author = {Teresa Zhao and Andrew P Fennell and Tanavi Sharma and Katrina M Bell and Monique Dunstan and Sebastian Lunke and Meagan J McGrath and Catriona McLean and Undiagnosed Diseases Network (UDN\&\#x2010;Aus) and David R Thorburn and David A Stroud and John Christodoulou}, year = {2026}, doi = {10.1002/ajmg.a.70191}, url = {https://pubmed.ncbi.nlm.nih.gov/42109093/}, note = {Source identifier: 42109093} }