Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Mitani, Tadahiro, Punetha, Jaya, Akalin, Ibrahim, Pehlivan, Davut, Dawidziuk, Mateusz, Coban Akdemir, Zeynep, Yilmaz, Sarenur, Aslan, Ezgi, Hunter, Jill V., Hijazi, Hadia, Grochowski, Christopher M., Jhangiani, Shalini N., Karaca, Ender, Fatih, Jawid M., Iwanowski, Piotr, Gambin, Tomasz, Wlasienko, Pawel, Goszczanska-Ciuchta, Alicja, Bekiesinska-Figatowska, Monika, Hosseini, Masoumeh, Arzhangi, Sanaz, Najmabadi, Hossein, Rosenfeld, Jill A., Du, Haowei, Marafi, Dana, Blaser, Susan, Teitelbaum, Ronni, Silver, Rachel, Posey, Jennifer E., Ropers, Hans-Hilger, Gibbs, Richard A., Wiszniewski, Wojciech, Lupski, James R., Chitayat, David, Kahrizi, Kimia, Gawlinski, Pawel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848995/
https://ncbi.nlm.nih.gov/pubmed/31630790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.017
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