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1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome
Authors:Thipwimol Tim‐Aroon  Natini Jinawath  Weerin Thammachote  Praweena Sinpitak  Anchalee Limrungsikul  Chaiyos Khongkhatithum  Duangrurdee Wattanasirichaigoon
Affiliation:1. Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand;2. Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand;3. DNA Center, Bangkok, Thailand;4. Division of Neonatology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand;5. Division of Neurology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Abstract:
Keywords:1q21.3  developmental delay  GATAD2B  hypotonia  microdeletion  non‐homologous end joining  SNP array  TPM3
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