A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family

Detalles Bibliográficos
Autores principales: Itoh, Masatsune, Kittaka, Yuko, Niida, Yo, Saikawa, Yutaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2016
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965513/
https://www.ncbi.nlm.nih.gov/pubmed/27507914
http://dx.doi.org/10.1297/cpe.25.115
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author Itoh, Masatsune
Kittaka, Yuko
Niida, Yo
Saikawa, Yutaka
author_facet Itoh, Masatsune
Kittaka, Yuko
Niida, Yo
Saikawa, Yutaka
author_sort Itoh, Masatsune
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spelling pubmed-49655132016-08-09 A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family Itoh, Masatsune Kittaka, Yuko Niida, Yo Saikawa, Yutaka Clin Pediatr Endocrinol Mutation-in-Brief The Japanese Society for Pediatric Endocrinology 2016-07-20 2016-07 /pmc/articles/PMC4965513/ /pubmed/27507914 http://dx.doi.org/10.1297/cpe.25.115 Text en 2016©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
Itoh, Masatsune
Kittaka, Yuko
Niida, Yo
Saikawa, Yutaka
A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title_full A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title_fullStr A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title_full_unstemmed A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title_short A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
title_sort novel frameshift mutation in the trps1 gene caused tricho-rhino-phalangeal syndrome type i and iii in a japanese family
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965513/
https://www.ncbi.nlm.nih.gov/pubmed/27507914
http://dx.doi.org/10.1297/cpe.25.115
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