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

door Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O’Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.
Gepubliceerd in J Pediatr (2019)