TY  - RPRT
TI  - X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.
AU  - Ha Young Jo
AU  - Young Mi Kim
AU  - Hyerin Kim
AU  - Yoon Jae Cho
AU  - Chong Kun Cheon
PY  - 2026
DO  - 10.1186/s12887-026-07055-3
UR  - https://pubmed.ncbi.nlm.nih.gov/42288746/
ID  - 42288746
ER  -