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City Santos / / Company Wilson / Xing / / Currency pence / / MedicalCondition Neonatal Marfan Syndrome / Ehlers-Danlos Syndrome / microdeletion syndrome / pigmentary disorder / Sensorineural Deafness / Dandy-Walker malformation / Ohdo syndrome / novel syndrome / severe hydronephrosis / Congenital Contractural Arachnodactyly / Severe spontaneous intracranial hypotension / severe lymphedema / Focal Dermal Hypoplasia / Thrush / Autism Spectrum Disorder / holoprosencephaly / multisystemic smooth muscle dysfunction / Marfan syndrome / EEC syndrome / Antley-Bixler syndrome / New Syndrome / recognizable 6p25 microdeletion syndrome / Epilepsy / IV deficiency / deficiency / Smith-Fineman-Myers Syndrome / partial trisomy 4p syndrome / autosomal recessive cutis laxa type I / Marfancraniosynostosis/mental retardation disorders / thoracic aortic aneurysms / syndrome / / Person Van Kogelenberg / Lesley Ades / / Position intensive care physician / Boxer / / PublishedMedium Nature Genetics / American Journal of Human Genetics / European Heart Journal / Pediatric Research / European Journal of Human Genetics / Critical Care Medicine / / Technology alpha / Genomics / Proteomics / genotype / / SocialTag