EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

EML1 encodes the protein Echinoderm microtubule‐associated protein‐like 1 or EMAP‐1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging det...

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Detalhes bibliográficos
Publicado no:Am J Med Genet C Semin Med Genet
Main Authors: Oegema, Renske, McGillivray, George, Leventer, Richard, Le Moing, Anne‐Gaëlle, Bahi‐Buisson, Nadia, Barnicoat, Angela, Mandelstam, Simone, Francis, David, Francis, Fiona, Mancini, Grazia M. S., Savelberg, Sanne, van Haaften, Gijs, Mankad, Kshitij, Lequin, Maarten H.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Research Reviews
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916563/
https://ncbi.nlm.nih.gov/pubmed/31710781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31751
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