NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

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

doi:10.1371/journal.pgen.0030080

Public

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

Published in PLoS Genetics • May 23, 2007

Authors:

Lu W

Fabiola Quintero‐Rivera

Yanli Fan

Abstract

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 tr...

Subject

Haploinsufficiency

Biology

Agenesis of the corpus callosum

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