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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2007
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1877820/
https://ncbi.nlm.nih.gov/pubmed/17530927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.0030080
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