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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

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