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A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Detalles Bibliográficos
Autores principales:	Fukuma, Mami, Takagi, Masaki, Shimazu, Tomoyuki, Imamura, Hoseki, Yagi, Hiroko, Nishimura, Gen, Hasegawa, Tomonobu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2018
Materias:	Mutation-in-Brief
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073055/ https://www.ncbi.nlm.nih.gov/pubmed/30083037 http://dx.doi.org/10.1297/cpe.27.193

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