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A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
Autores principales: | Itoh, Masatsune, Kittaka, Yuko, Niida, Yo, Saikawa, Yutaka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2016
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Materias: | |
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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