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

ConclusionDeletions involvingNFIX gene should be considered in patients with overgrowth during childhood, macrocephaly, developmental delay, and seizures, as well as severe intellectual disability.

Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Fernanda T. Bellucco, Claudia B. Mello, Vera A. Meloni, Maria Isabel Melaragno Tags: CLINICAL REPORT Source Type: research