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Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease.
Applied & Translational Genomics 2016 March
As the parent and caregiver of a child with an ultra-rare disease and advocate for others with the same condition, I discuss the importance of phenotyping in rare disease research. I emphasize the need for more clinical geneticists, deeper and more intentional integration of clinical genetics in complex patient care, and a greater appreciation of patients and families as an informational resource.
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