DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Chong JX, McMillin MJ, Shively KM. , et al; University of Washington Center for Mendelian Genomics.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet 2015;
96 (03) 462-473
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