Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.
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DOI: 10.1101/cshperspect.a036640
Abstract: Screening and diagnostic testing for single-gene disorders and common syndromes in the pediatric setting frequently generate data that are challenging to interpret, and the ability to diagnose genetic conditions has outpaced the development of successful… read more here.
Keywords: common syndromes; counseling; genetic counseling; gene disorders ... See more keywords