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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

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作者单位: Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. [1] Department of Internal Medicine, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. Noaalharbi@pnu.edu.sa. [2] Foundation Year of Health Colleges, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. [3] Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.;Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. [4] Research and Academic Accreditation, Academic Affairs, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. [5] Out-Patient department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia. [6] Department of Pathology and Laboratory Medicine, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. [7] Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. [8] Centogene GmbH, Rostock, Germany. [9] Health Support Services Centre, Ministry of Health, Riyadh, 12382, Saudi Arabia. [10] Pediatric Department, Division of Genetic and Metabolic, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. [11] Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia. [12] Family and Community Medicine Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. [13] Department of Biology, College of Science, Princes Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. [14] Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.;Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. [15] Pediatric Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. [16]
DOI 10.1186/s40246-024-00662-0
PMID 39232803
发布时间 2025-01-24
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