Last Updated: 09/26/2026
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Found 9 publications
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 21, 2024
Severe aortic root dilatation in infantile Marfan syndrome.
Journal: Proceedings (Baylor University. Medical Center)
Published: May 20, 2019
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 03, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 29, 2018
Long QT Manifested as Giant and Inverted T Waves With a SCN5A Mutation.
Journal: Journal of cardiovascular electrophysiology
Published: July 16, 2016
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
Journal: Molecular genetics and metabolism reports
Published: September 15, 2015
Congenital lingual hemihyperplasia, Horner's syndrome, and agenesis of the internal carotid artery.
Journal: Pediatric neurology
Published: January 13, 2014
Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects.
Journal: Developmental biology
Published: March 25, 2013
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Last Updated: 09/26/2026