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Genetics in Medicine Open
(Jan 2024)
P324: Ocular findings as the most striking manifestation of a SMAD3 variant
Noémie Villeneuve-Cloutier,
Christie Boswell-Patterson,
Josée Martineau,
Krista Vincent,
Andrea Yu,
Gail Graham,
Julie Richer
Affiliations
Noémie Villeneuve-Cloutier
University of Ottawa, Department of Medical Genetics, CHEO
Christie Boswell-Patterson
Children's Hospital of Eastern Ontario Research Institute
Josée Martineau
I See Optometry Clinic
Krista Vincent
Department of Medical Genetics, CHEO
Andrea Yu
Division of Metabolics and Newborn Screening, Department of Pediatrics, CHEO; Children's Hospital of Eastern Ontario Research Institute
Gail Graham
Department of Medical Genetics, CHEO, Department of Paediatrics, University of Ottawa
Julie Richer
Department of Medical Genetics, CHEO; Children's Hospital of Eastern Ontario Research Institute
Journal volume & issue
Vol. 2
p. 101218
Abstract
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