ID | 116193 |
Author |
Osumi, Keita
Tokushima University
Suga, Kenichi
Tokushima University
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Ono, Akemi
Tokushima University
Goji, Aya
Tokushima University
Mori, Tatsuo
Tokushima University
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Sugano, Mikio
Tokushima University
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Urushihara, Maki
Tokushima University
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Nakagawa, Ryuji
Tokushima University
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Hayabuchi, Yasunobu
Tokushima University
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Kagami, Shoji
Tokushima University
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Content Type |
Journal Article
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Description | A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.
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Journal Title |
Human Genome Variation
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ISSN | 2054345X
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Publisher | Springer Nature
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Volume | 7
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Start Page | 21
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Published Date | 2020-07-16
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Rights | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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EDB ID | |
DOI (Published Version) | |
URL ( Publisher's Version ) | |
FullText File | |
language |
eng
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TextVersion |
Publisher
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departments |
University Hospital
Medical Sciences
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