A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holo...

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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2019
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506867/
https://ncbi.nlm.nih.gov/pubmed/31006510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.017
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