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The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases2020 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Camille Kumps, Belinda Campos‐Xavier, Yvonne Hilhorst‐Hofstee, Carlo Marcelis, MARIUS E. KRAENZLIN, Nicole Fleischer, +2 more
19citations -
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family2021 Journal of Clinical Neuromuscular Disease article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Violeta Mihaylova, Fabian Chablais, Juliane Bremer, Roman Guggenberger, Elisabeth Jane Rushing, Tobias Bethge, +2 more
3citations
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