Article
Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Pediatric research - 1 Aug 2021
Kauffman Hunter, Ahrens-Nicklas Rebecca C, Calderon-Anyosa Renzo J C, Ritter Alyssa L, Lin Kimberly Y, Rossano Joseph W, Quartermain Michael D, Banerjee Anirban
Abstract excerpt
BACKGROUND: Noonan Syndrome with Multiple Lentigines (NSML) and Noonan Syndrome (NS) can be difficult to differentiate clinically in early childhood. This study aims to describe characteristics of the ventricular septum that may differentiate NSML from NS. We hypothesize that the shape of the ventricular septum determined by echocardiography correlates with genotype and may distinguish patients with NSML from...
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