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  1. 1
    The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

    The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Fo... by Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga

    Published 2020-04-01
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  2. 2
    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

    Published 2021-10-01
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    Article

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