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.
Lu W, et al. Among authors: xi q.
PLoS Genet. 2007 May 25;3(5):e80. doi: 10.1371/journal.pgen.0030080.
PLoS Genet. 2007.
PMID: 17530927
Free PMC article.