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
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author Takagi, Masaki
Yagi, Hiroko
Nakamura, Yoshie
Shinohara, Hiroyuki
Takeda, Ryojun
Shimada, Aya
Nishimura, Gen
Hasegawa, Yukihiro
author_facet Takagi, Masaki
Yagi, Hiroko
Nakamura, Yoshie
Shinohara, Hiroyuki
Takeda, Ryojun
Shimada, Aya
Nishimura, Gen
Hasegawa, Yukihiro
author_sort Takagi, Masaki
collection PubMed
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spelling pubmed-46395342015-11-20 A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2 Takagi, Masaki Yagi, Hiroko Nakamura, Yoshie Shinohara, Hiroyuki Takeda, Ryojun Shimada, Aya Nishimura, Gen Hasegawa, Yukihiro Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2015-07-18 2015-07 /pmc/articles/PMC4639534/ /pubmed/26594095 http://dx.doi.org/10.1297/cpe.24.139 Text en 2015©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Mutation-in-Brief
Takagi, Masaki
Yagi, Hiroko
Nakamura, Yoshie
Shinohara, Hiroyuki
Takeda, Ryojun
Shimada, Aya
Nishimura, Gen
Hasegawa, Yukihiro
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title_full A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title_fullStr A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title_full_unstemmed A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title_short A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
title_sort case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of trappc2
topic Mutation-in-Brief
url 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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