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A de novo 0.63 Mb 6q25.1 deletion associated with growth failure,congenital heart defect,underdeveloped cerebellar vermis,abnormal cutaneous elasticity and joint laxity
Authors:Vincenzo Salpietro  Martino Ruggieri  Kshitij Mankad  Gabriella Di Rosa  Francesca Granata  Italia Loddo  Emanuela Moschella  Maria Pia Calabro  Anna Capalbo  Laura Bernardini  Antonio Novelli  Agata Polizzi  Daniela G. Seidler  Teresa Arrigo  Silvana Briuglia
Affiliation:1. Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, United Kingdom;2. Unit of Genetics and Paediatric Immunology, Department of Paediatrics, University of Messina, Messina, Italy;3. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy;4. Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom;5. Unit of Infantile Neuropsychiatry, Department of Paediatrics, University of Messina, Messina, Italy;6. Unit of Neuroradiology, Department of Biomedical Sciences and Morpho‐Functional Imaging, University of Messina, Messina, Italy;7. Unit of Pediatric Cardiology, Department of Paediatrics, University of Messina, Messina, Italy;8. Institute of Medical Genetics, “CSS‐Mendel” Institute, Rome, Italy;9. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy;10. Institute of Neurological Sciences, National Research Council, Catania, Italy;11. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy;12. Institute for Physiological Chemistry and Pathobiochemistry, University of Munster, Munster, Germany
Abstract:
Keywords:6q deletion  6q25 syndrome  congenital heart defect  cerebellar hypoplasia  Ehlers‐Danlos syndrome  arrhythmia  IUGR  growth retardation  TAB2  UST  LATS1
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