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Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.

Fernanda T BelluccoClaudia B de MelloVera A MeloniMaria Isabel Melaragno
Published in: Molecular genetics & genomic medicine (2019)
Deletions involving NFIX gene should be considered in patients with overgrowth during childhood, macrocephaly, developmental delay, and seizures, as well as severe intellectual disability.
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