@article {671,
	title = {Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.},
	journal = {J Pediatr},
	volume = {213},
	year = {2019},
	month = {2019 Oct},
	pages = {235-240},
	abstract = {<p>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.</p>},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2019.05.029},
	author = {Wojcik, Monica H and Thiele, Katri and Grant, Carly F and Chao, Katherine and Goodrich, Julia and O{\textquoteright}Donnell-Luria, Anne and Lacro, Ronald V and Tan, Wen-Hann and Agrawal, Pankaj B}
}
