@misc{indiciae05befd286ac6, title = {Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.}, author = {Xicui Long and Wenyu Xiong and Xuegang Wang and Jia Geng and Mingjun Zhong and Yu Huang and Man Liu and Fengxiao Bu and Jing Cheng and Yu Lu and Huijun Yuan}, year = {2024}, doi = {10.1186/s12920-024-01984-7}, url = {https://pubmed.ncbi.nlm.nih.gov/39123271/}, note = {Source identifier: 39123271} }