Truncating mutation in NFIA causes brain malformation and urinary tract defects

Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling the 1p32-p31 deletion syndrome carrying a de novo truncating mutation (c.1094delC; p.Pro365His...

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Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Mizuno, Kentaro, Hori, Ikumi, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
Onderwerpen:
Data Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785547/
https://ncbi.nlm.nih.gov/pubmed/27081522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.7
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