Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature - Akalin, Akcahan; Taskiran, Ekim Z.; Simsek\\-Kiper, Pelin Oezlem; Utine, Eda; Alanay, Yasemin; Ozcelik, Ugur; Boduroglu, Koray (WILEY, 2021)
Keywords: exome sequencing; EXTL3; liver cysts; spondyloepimetaphyseal dysplasia