A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

Detalles Bibliográficos
Autores principales: Takagi, Masaki, Yagi, Hiroko, Nakamura, Yoshie, Shinohara, Hiroyuki, Takeda, Ryojun, Shimada, Aya, Nishimura, Gen, Hasegawa, Yukihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639534/
https://www.ncbi.nlm.nih.gov/pubmed/26594095
http://dx.doi.org/10.1297/cpe.24.139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639534/
https://www.ncbi.nlm.nih.gov/pubmed/26594095
http://dx.doi.org/10.1297/cpe.24.139

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