@misc{indiciae95092f9196ca, title = {The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.}, author = {Iulia Maria Sabau and Alexandra Chera and Victor Gabriel Ungureanu and Mircea Cretu Stancu and Adela Chirita-Emandi and Matthew Wood and Maria Puiu and Octavian Bucur}, year = {2025}, doi = {10.3390/ijms27010034}, url = {https://pubmed.ncbi.nlm.nih.gov/41515914/}, note = {Source identifier: 41515914} }