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Open AccessCommentary

Dysmorphology in the Era of Genomic Diagnosis

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
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(1), 18; https://doi.org/10.3390/jpm10010018
Received: 28 January 2020 / Revised: 11 March 2020 / Accepted: 13 March 2020 / Published: 17 March 2020
(This article belongs to the Special Issue The Interface between Human Physiology and Medical Device Development)
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. View Full-Text
Keywords: dysmorphology; genetic testing; nextgen panels dysmorphology; genetic testing; nextgen panels
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Hurst, A.C.E.; Robin, N.H. Dysmorphology in the Era of Genomic Diagnosis. J. Pers. Med. 2020, 10, 18.

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