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Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.

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第一作者： Jessie X,Xu

第一单位： Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Vic., Australia; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia.

作者： Jessie X,Xu ^[1] ; Nicky,Kilpatrick ^[2] ; Naomi L,Baker ^[3] ; Anthony,Penington ^[2] ; Peter G,Farlie ^[1] ; Tiong Yang,Tan ^[4]

作者单位： Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Vic., Australia; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia. ^[1] Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Vic., Australia; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia; Royal Children's Hospital, Melbourne, Vic., Australia. ^[2] Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Vic., Australia. ^[3] Murdoch Childrens Research Institute, University of Melbourne, Melbourne, Vic., Australia; Department of Paediatrics, University of Melbourne, Melbourne, Vic., Australia; Royal Children's Hospital, Melbourne, Vic., Australia; Victorian Clinical Genetics Services, Melbourne, Vic., Australia. ^[4]

关键词 Birth defects Craniofacial anomalies Dysmorphology Noncoding DNA Phenotyping SOX9

DOI 10.1159/000449115

PMID 27920635

发布时间 2020-09-29

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