Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction-Reference-Cited by-同舟云学术

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

Published:2023-10 Issue:5 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Warman-Chardon Jodi¹^ORCID,Hartley Taila¹^ORCID,Marshall Aren Elizabeth¹^ORCID,McBride Arran¹,Couse Madeline¹^ORCID,Macdonald William¹,Mann Mellissa R.W.¹^ORCID,Bourque Pierre R.¹^ORCID,Breiner Ari¹^ORCID,Lochmüller Hanns¹^ORCID,Woulfe John¹^ORCID,Sampaio Marcos Loreto¹^ORCID,Melkus Gerd¹^ORCID,Brais Bernard¹^ORCID,Dyment David A.¹^ORCID,Boycott Kym M.¹^ORCID,Kernohan Kristin¹

Affiliation:

1. From the Department of Medicine (J.W.-C., P.R.B., A.B., H.L.), The Ottawa Hospital; The Ottawa Hospital Research Institute (J.W.-C., P.R.B., H.L., J.W., M.L.S., G.M.); Faculty of Medicine (J.W.-C., P.R.B., A.B., H.L., J.W., M.L.S., D.A.D., K.M.B.); Children's Hospital of Eastern Ontario Research Institute (J.W.-C., T.H., A.E.M., A.M., H.L., D.A.D., K.M.B., K.K.), University of Ottawa; Hospital for Sick Children (M.C.), Centre for Computational Medicine, Toronto, Canada; Department of Obstetrics (W.M...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200088

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5. The DNA-binding specificity of SOX9 and other SOX proteins