@misc{indiciae662dff5e1096, title = {X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.}, author = {Ha Young Jo and Young Mi Kim and Hyerin Kim and Yoon Jae Cho and Chong Kun Cheon}, year = {2026}, doi = {10.1186/s12887-026-07055-3}, url = {https://pubmed.ncbi.nlm.nih.gov/42288746/}, note = {Source identifier: 42288746} }