A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report

RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but mi...

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Detalles Bibliográficos
Autores principales: Zhang, Li, Wang, Jinling, Dong, Guanping, Wu, Dingwen, Wu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982231/
https://www.ncbi.nlm.nih.gov/pubmed/33726005
http://dx.doi.org/10.1097/MD.0000000000025169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982231/
https://www.ncbi.nlm.nih.gov/pubmed/33726005
http://dx.doi.org/10.1097/MD.0000000000025169

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