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Article

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

BMC pediatrics - 2 Jan 2023

Aniol Claudia V, Prokop Jeremy W, Rajasekaran Surender, Pageau Spencer, Elizer Sydney K, VanSickle Elizabeth A, Bupp Caleb P

Abstract excerpt

BACKGROUND: Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here, we report a case of dilated coronary arteries in a pediatric patient with a RIT1 variant to add to the body of literature around this rare presentation of...

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Identifiers

PMID: 36593444
DOI: 10.1186/s12887-022-03818-w
PMCID: PMC9806447

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