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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916563/
https://www.ncbi.nlm.nih.gov/pubmed/31710781
http://dx.doi.org/10.1002/ajmg.c.31751

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