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A splice variant in expands the clinical and genetic spectrum of Harel-Yoon syndrome.

作者信息

Hanes Ilana, McMillan Hugh J, Ito Yoko, Kernohan Kristin D, Lazier Joanna, Lines Matthew A, Dyment David A

机构信息

Division of Neurology (I.H., H.J.M.), Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute (H.J.M., Y.I., D.A.D.), University of Ottawa; Newborn Screen Ontario (K.D.K.), Ottawa; Department of Clinical Genetics (J.L., D.A.D.), and Division of Metabolics (M.A.L.), Children's Hospital of Eastern Ontario, University of Ottawa.

出版信息

Neurol Genet. 2020 Jun 3;6(4):e452. doi: 10.1212/NXG.0000000000000452. eCollection 2020 Aug.

DOI:10.1212/NXG.0000000000000452
PMID:32607449
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7286657/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b36f/7286657/d71dd1a12942/NG2019012229f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b36f/7286657/d71dd1a12942/NG2019012229f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b36f/7286657/d71dd1a12942/NG2019012229f1.jpg

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Nat Commun. 2019 Mar 26;10(1):1371. doi: 10.1038/s41467-019-09291-x.
3
Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
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