STAG2 is a Novel Genetic Cause of Atelencephaly
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Presenting Author - Julie M. Lander, MD, PhD; Co-Author - Rama S. Ayyala, MD; Co-Author - Cameron Thomas, MD, MS; Co-Author - Robert J. Hopkin, MD;
Meta Tag
Brain/Nervous System
Clinical History
Congenital Anomaly
Delineation of Diseases
Dysmorphology
Etiology
Exome sequencing
Fetal Pathology
Genetic Testing
Genotype-Phenotype Correlations
Identification of Disease Genes
Malformation
Morphogenesis
Natural History
Phenotype
Phenotypic delineation of disorders
Prenatal Diagnosis
Sequencing
Co-Author Rama S. Ayyala, MD
Co-Author Cameron Thomas, MD, MS
Co-Author Robert J. Hopkin, MD
Presenting Author Julie M. Lander, MD, PhD
Keywords
atelencephaly
brain malformation
fetal care center
microcephaly
dysmorphic features
pre-axial polydactyly
genetic testing
STAG2 gene
Cohesin complex
neurodevelopmental conditions

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