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Article

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

PLoS genetics - 25 May 2007

Lu Weining, Quintero-Rivera Fabiola, Fan Yanli, Alkuraya Fowzan S, Donovan Diana J, Xi Qiongchao, Turbe-Doan Annick, Li Qing-Gang, Campbell Craig G, Shanske Alan L, Sherr Elliott H, Ahmad Ayesha, Peters Roxana, Rilliet Benedict, Parvex Paloma, Bassuk Alexander G, Harris David J, Ferguson Heather, Kelly Chantal, Walsh Christopher A, Gronostajski Richard M, Devriendt Koenraad, Higgins Anne, Ligon Azra H, Quade Bradley J, Morton Cynthia C, Gusella James F, Maas Richard L

Abstract excerpt

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17530927
DOI: 10.1371/journal.pgen.0030080
PMCID: PMC1877820

Genes

NFIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17530927-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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