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Article

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A - 1 Jul 2022

Fry Deanna, Groepper Daniel, MacCarrick Gretchen, Demo Erin M, Thomas Matthew J, Wilkes Margaret J, Lyons Michael J, Tucker Megan E, Steding Catherine, Fleischer Julie

Abstract excerpt

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in LDS. Two previous reports present a total of four patients with LDS due to pure 1q41 deletions involving TGFB2 (Gaspar et al., American Journal of Medical Genetics Part A, 2017, 173,...

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Identifiers

PMID: 35426477
DOI: 10.1002/ajmg.a.62758

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Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.PMID 35426477Read ↗

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