Associated Papers
Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.
Lyu Y et al.
Frontiers in Genetics, 2026
Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.
Lou G et al.
Frontiers in Genetics, 2023
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.
Fukuma M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2018
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK et al.
American Journal of Human Genetics, 2001
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