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Journal: Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

Center:
Fiscal Year:
2026
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Product Description:
This work gives valuable insight into the pathophysiology of MASNS and sets a framework upon which to design future mechanistic studies of PKA signaling in brain development.
Keyword(s):
PRKAR1B; autism, case series; disability, genotype; neurodevelopmental disorder, pathophysiology, phenotype
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Professionals
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COVID-19 Related Data:
N/A