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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy
Authors:Sara Cabet  Audrey Putoux  Annie Buenerd  Lucie Gueneau  Alexandre Reymond  Edwin WH Thia  Angeline HM Lai  Erica M Schindewolf  Damien Sanlaville  Gaetan Lesca  Laurent Guibaud
Institution:1. Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France;2. Department of Genetics, Hospital Femme Mère Enfant, Lyon, Bron, France;3. Department of Pathology, Hospital Femme Mère Enfant, Lyon, Bron, France;4. Center for Integrative Genomics, Lausanne, Switzerland;5. Department of Maternal Fetal Medicine, KK Women's & Children's Hospital, Singapore;6. Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Duke-NUS Medical School, Lee Kong Medical School, Singapore;7. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, USA
Abstract:
Keywords:
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