Last Updated: 09/26/2026
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Found 16 publications
Loeys-Dietz syndrome: 2026 updated care management primer.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 19, 2024
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Journal: Journal of medical genetics
Published: July 17, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Journal: American journal of human genetics
Published: April 01, 2024
Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Journal: American journal of medical genetics. Part A
Published: October 19, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Journal: Epilepsia
Published: December 17, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Journal: International journal of neonatal screening
Published: December 11, 2019
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Journal: American journal of medical genetics. Part A
Published: October 08, 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
Journal: The Journal of pediatrics
Published: May 24, 2019
Last Updated: 09/26/2026