학술논문
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Document Type
Academic Journal
Author
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.
Source
PLoS Genetics. May, 2007, Vol. 3 Issue 5, p830, 14 p.
Subject
Language
English
ISSN
1553-7390
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 [...]