Last Updated: 09/26/2026
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Found 7 publications
A unique cardiovascular presentation of Marfan syndrome.
Journal: American journal of medical genetics. Part A
Published: October 26, 2021
The spectrum of brain malformations and disruptions in twins.
Journal: American journal of medical genetics. Part A
Published: June 22, 2020
Redefining the Etiologic Landscape of Cerebellar Malformations.
Journal: American journal of human genetics
Published: June 03, 2019
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Journal: American journal of medical genetics. Part A
Published: June 01, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Journal: Brain : a journal of neurology
Published: April 27, 2017
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.
Journal: American journal of medical genetics. Part A
Published: September 28, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Journal: JCI insight
Published: September 16, 2016
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Last Updated: 09/26/2026