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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1877820/
https://www.ncbi.nlm.nih.gov/pubmed/17530927
http://dx.doi.org/10.1371/journal.pgen.0030080

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