NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Lu W; Quintero-Rivera F; Fan Y; Alkuraya FS; Donovan DJ; Xi Q; Turbe-Doan A; Li QG; Campbell CG; Shanske AL; Sherr EH; Ahmad A; Peters R; Rilliet B; Parvex P; Bassuk AG; Harris DJ; Ferguson H; Kelly C; Walsh CA; Gronostajski RM; Devriendt K; Higgins A; Ligon AH; Quade BJ; Morton CC; Gusella JF; Maas RL; Plos Genetics, 2007, vol. 3, issue 5, p e80, ISSN 15537404. ISBN 15537404.

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