Diagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.

Abstract excerpt

Genomic tests can illuminate and mislead. I cared for a school-aged boy with short stature whose copy-number variant at 1q21.1-typically associated with variable neurodevelopmental and cardiac features rather than isolated short stature-seduced me into a syndromic label. I told his family that a "pathogenic" deletion likely explained his growth. Months later, family segregation testing contradicted the story:...

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