Ebun Omoyinmi
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Redefining the Landscape: Acquired Mutations Driving Systemic Autoinflammatory Diseases
Supporting Information Filename Description art70282-sup-0001-FigureS1.pdfPDF document, 18.7 KB Data S1: Figure S1 art70282-sup-0002-TableS1-S2.docxWord 2007 document , 23.3 KB Data S2: Table S1-S2 art70282-sup-0003-Disclosureform.pdfPDF document, 293.5 KB Data S3: Disclosureform
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
Heterozygous mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a contractile protein of smooth muscle cells (SMC), have been described to cause thoracic aortic aneurysm or aortic dissection (TAAD) and patent ductus arteriosus (PDA).1 Herein we expand the phenotype associated with MYH11 mutations to include moyamoya-like cerebrovascular disease.
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome Sonia Melo Gomes, Cristina Dias, Ebun Omoyinmi, Sandrine Compeyrot-Lacassagne, Nigel Klein, Neil J. Sebire, Paul Brogan Pediatrics Jul 2019, 144 (1) e20181741; DOI: 10.1542/peds.2018-1741
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