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

Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok Hwa Kim, Yonghwan Kim, Tae Joon Cho

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Medicine & Life Sciences