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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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Bibliografske podrobnosti
izdano v:Indian J Pediatr
Main Authors: Goyal, Manisha, Bijarnia-Mahay, Sunita, Kingsmore, Stephen, Farrow, Emily, Saunders, Carol, Saxena, Renu, Verma, Ishwar C.
Format: Artigo
Jezik:Inglês
Izdano: 2014
Teme:
Online dostop: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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