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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Genet Med 23:1715-1725 (2021)
DOI:10.1038/s41436-021-01196-9

Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Am J Med Genet A 173:1951-1954 (2017)
DOI:10.1002/ajmg.a.38236