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Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
by
Punetha, Jaya, MS
,
Monges, Soledad, MD
,
Franchi, Maria Emilia, MD
,
Hoffman, Eric P., PhD
,
Cirak, Sebahattin, MD
,
Tesi-Rocha, Carolina, MD
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Pediatric neurology
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Peer Reviewed
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Pediatric Neurology
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Charcot-Marie-Tooth
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Child, Preschool
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Clinical Neurology
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Cytoplasmic Dyneins - Genetics
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Distal Spinal Muscular Atrophy
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Dsma
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Dync1H1
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Female
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Humans
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Life Sciences & Biomedicine
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Lower Extremity Deformities, Congenital - Complications
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Muscular Atrophy, Spinal - Complications
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Muscular Atrophy, Spinal - Genetics
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Mutation - Genetics
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Neurology
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Neurosciences & Neurology
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Pediatrics
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Science & Technology
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Sma-Led
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Spinal Muscular Atrophy With Lower Extremity Predominance
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