Dysmorphology in the Era of Genomic Diagnosis

Hurst, Anna C. E.; Robin, Nathaniel H.

doi:10.3390/jpm10010018

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Dysmorphology in the Era of Genomic Diagnosis

by

Anna C. E. Hurst

^1,2 and

Nathaniel H. Robin

^1,2,3,*

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

Submission 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)

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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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MDPI and ACS Style

Hurst, A.C.E.; Robin, N.H. Dysmorphology in the Era of Genomic Diagnosis. J. Pers. Med. 2020, 10, 18. https://doi.org/10.3390/jpm10010018

AMA Style

Hurst ACE, Robin NH. Dysmorphology in the Era of Genomic Diagnosis. Journal of Personalized Medicine. 2020; 10(1):18. https://doi.org/10.3390/jpm10010018

Chicago/Turabian Style

Hurst, Anna C. E., and Nathaniel H. Robin. 2020. "Dysmorphology in the Era of Genomic Diagnosis" Journal of Personalized Medicine 10, no. 1: 18. https://doi.org/10.3390/jpm10010018

APA Style

Hurst, A. C. E., & Robin, N. H. (2020). Dysmorphology in the Era of Genomic Diagnosis. Journal of Personalized Medicine, 10(1), 18. https://doi.org/10.3390/jpm10010018

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

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Dysmorphology in the Era of Genomic Diagnosis

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