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Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing
Infantile Neuro axonal Dystrophy (INAD), is a rare inherited neurological disorder which affects nerve axons causing progressive loss of mental skills, muscular control and vision. The authors present a case of 5.8-y-old girl with INAD who was diagnosed after Next Generation Sequencing (NGS). She wa...
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| 出版年: | Indian J Pediatr |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4390426/ https://ncbi.nlm.nih.gov/pubmed/25348461 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12098-014-1608-z |
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