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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author Fukuma, Mami
Takagi, Masaki
Shimazu, Tomoyuki
Imamura, Hoseki
Yagi, Hiroko
Nishimura, Gen
Hasegawa, Tomonobu
author_facet Fukuma, Mami
Takagi, Masaki
Shimazu, Tomoyuki
Imamura, Hoseki
Yagi, Hiroko
Nishimura, Gen
Hasegawa, Tomonobu
author_sort Fukuma, Mami
collection PubMed
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spelling pubmed-60730552018-08-06 A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2 Fukuma, Mami Takagi, Masaki Shimazu, Tomoyuki Imamura, Hoseki Yagi, Hiroko Nishimura, Gen Hasegawa, Tomonobu Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2018-07-31 2018 /pmc/articles/PMC6073055/ /pubmed/30083037 http://dx.doi.org/10.1297/cpe.27.193 Text en 2018©The Japanese Society for Pediatric Endocrinology This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/）.
spellingShingle Mutation-in-Brief
Fukuma, Mami
Takagi, Masaki
Shimazu, Tomoyuki
Imamura, Hoseki
Yagi, Hiroko
Nishimura, Gen
Hasegawa, Tomonobu
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title_full A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title_fullStr A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title_full_unstemmed A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title_short A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
title_sort familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in trappc2
topic Mutation-in-Brief
url 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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