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Hurst ACE, Robin NH. Dysmorphology in the Era of Genomic Diagnosis. J Pers Med. 2020;10(1)doi: 10.3390/jpm10010018.
Hurst, A. C. E., & Robin, N. H. (2020). Dysmorphology in the Era of Genomic Diagnosis. Journal of personalized medicine, 10(1), . https://doi.org/10.3390/jpm10010018
Hurst, Anna C E, and Robin, Nathaniel H. "Dysmorphology in the Era of Genomic Diagnosis." Journal of personalized medicine vol. 10,1 (2020). doi: https://doi.org/10.3390/jpm10010018
Hurst ACE, Robin NH. Dysmorphology in the Era of Genomic Diagnosis. J Pers Med. 2020 Mar 17;10(1). doi: 10.3390/jpm10010018. PMID: 32192103; PMCID: PMC7151624.
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J Pers Med. 2020 Mar 17;10(1). doi: 10.3390/jpm10010018.

Dysmorphology in the Era of Genomic Diagnosis.

Journal of personalized medicine

Anna C E Hurst, Nathaniel H Robin

Affiliations

  1. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35243, USA.
  2. Department of Pediatrics University of Alabama at Birmingham, Birmingham, AL 35243, USA.
  3. Department of Surgery/Otolaryngology, University of Alabama at Birmingham, Birmingham, AL 35243, USA.

PMID: 32192103 PMCID: PMC7151624 DOI: 10.3390/jpm10010018

Abstract

Genetic and genomic testing technologies have expanded beyond levels of diagnostic capability that were unimaginable even a few years ago. While this has significantly benefited clinicians in their care of patients and families, it has also altered how geneticists evaluate patients. One immediate example is the role of the dysmorphologic physical exam in the patient evaluation. While some have suggested that it is no longer necessary, we argue that the dysmorphologic physical exam is still essential, albeit in a different role.

Keywords: dysmorphology; genetic testing; nextgen panels

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