Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.

Joon Yeon WonDayeon KimSeon Young ParkHye Ran LeeJong-Seok LimJong Hoon ParkMi Hyun SongHae Ryong SongOk-Hwa KimYonghwan KimTae-Joon Cho

Published in: BMC medical genetics (2019)

In the current study, we provide additional experimental data showing that loss-of-function TRAPPC2 variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to TRAPPC2 gene.

Keyphrases

copy number
genome wide
electronic health record
dna methylation
gene expression
transcription factor