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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.
Journal article   Peer reviewed

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

Monica H. Wojcik, Katri Thiele, Carly F. Grant, Katherine R. Chao, Julia K. Goodrich, Anne H. O’Donnell-Luria, Ronald V. Lacro, Wen-Hann Tan and Pankaj B. Agrawal
The Journal of pediatrics, Vol.213, pp.235-240
2019
DOI: https://doi.org/10.1016/j.jpeds.2019.05.029

Abstract

FBN1 deletion fibrillin genetic
We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.
url
https://lens.org/008-565-794-864-31XView
url
https://www.sciencedirect.com/science/article/abs/pii/S0022347619305955View
url
https://www.ncbi.nlm.nih.gov/pubmed/31235381View
url
https://pubmed.ncbi.nlm.nih.gov/31235381/View
url
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765408View

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.168 Vascular, Cardiac & Thoracic Surgery
1.168.235 Abdominal Aortic Aneurysm
Web Of Science research areas
Pediatrics
ESI research areas
Clinical Medicine

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#3 Good Health and Well-Being

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