Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant

Heerali Patel; Mohammed Elkhwad; Gregory C. Martin

doi:10.12659/AJCR.938651

09 May 2023: Articles

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Variant

Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology

Heerali Patel ^A , Mohammed Elkhwad ^A* , Gregory C. Martin ^B

DOI: 10.12659/AJCR.938651

Am J Case Rep 2023; 24:e938651

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Background Case Report Discussion Conclusions References:

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Figure 2. Postnatal magnetic resonance imaging of brain without contrast: axial view demonstrating diffuse mild polymicrogyria, dysgenesis of the corpus callosum, and defect within the intraventricular septum (arrow).

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Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Variant

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