The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

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作者： Nathaly M,Sweeney ^[1] ; Shareef A,Nahas ^[2] ; Shimul,Chowdhury ^[1] ; Miguel Del,Campo ^[1] ; Marilyn C,Jones ^[3] ; David P,Dimmock ^[4] ; Stephen F,Kingsmore ^[3] ; RCIGM Investigators ^[1]

作者单位： Rady Children's Institute for Genomic Medicine, University of California, San Diego, California 92123, USA. ^[1] Department of Pediatrics, Division of Neonatology, University of California, San Diego, California 92123, USA. ^[2] Department of Pediatrics, Division of Genetics, University of California, San Diego, California 92123, USA. ^[3] Department of Pediatrics, Division of Dysmorphology and Teratology, Center for Better Beginnings, University of California, San Diego, California 92123, USA. ^[4]

关键词 anteverted nares aplasia/hypoplasia of the corpus callosum central hypotonia congenital diaphragmatic hernia congenital mitral stenosis failure to thrive in infancy frontal hirsutism malrotation of small bowel moderate global developmental delay perimembranous ventricular septal defect postductal coarctation of the aorta recurrent respiratory infections

主题词畸形, 多发性(Abnormalities, Multiple);危重病(Critical Illness);延迟诊断(Delayed Diagnosis);疾病管理(Disease Management);面部(Face);女(雌)性(Female);全基因组关联研究(Genome-Wide Association Study);基因组学(Genomics);手畸形, 先天性(Hand Deformities, Congenital);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);婴儿(Infant);小颌畸形(Micrognathism);颈(Neck);表型(Phenotype)

DOI 10.1101/mcs.a002469

PMID 29549119

发布时间 2019-12-10

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Cold Spring Harbor molecular case studies

2018年4卷3期

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The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

Cold Spring Harbor molecular case studies

相似文献

Cold Spring Harbor molecular case studies

相关期刊

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