Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations

OBJECTIVES: To refine the clinical spectrum of a very recently identified phenotype associated with LAMB1 end-truncating pathogenic variations. METHODS: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating LAMB1 variations. R...

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Detalles Bibliográficos
Autores principales: Morel, Hélène, Bailly, Laurent, Urbanczyk, Cédric, Hervé, Dominique, Berroir, Stéphane, Le Bouc, Raphaël, Levy, Richard, Meyer, Mylène, Aloui, Chaker, Tournier-Lasserve, Elisabeth, Mathey, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096279/
https://www.ncbi.nlm.nih.gov/pubmed/37063705
http://dx.doi.org/10.1212/NXG.0000000000200069

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