The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). P...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak
Fformat: Artigo
Iaith:Saesneg
Cyhoeddwyd: 2020
Mynediad Ar-lein:https://doi.org/10.1038/s10038-020-0803-1
https://www.nature.com/articles/s10038-020-0803-1.pdf
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